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- [31] De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic featuresAMERICAN JOURNAL OF HUMAN GENETICS, 2024, 111 (04) : 742 - 760Pan, Xueyang论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USATao, Alice M.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Vagelos Sch Phys & Surg, New York, NY USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALu, Shenzhao论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMa, Mengqi论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHannan, Shabab B.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASlaugh, Rachel论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWilliams, Sarah Drewes论文数: 0 引用数: 0 h-index: 0机构: UPMC Childrens Hosp Pittsburgh, Dept Pediat, Div Genet & Genom Med, Pittsburgh, PA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAO'Grady, Lauren论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Children, Div Med Genet & Metab, Boston, MA USA MGH Inst Hlth Profess, Charlestown, MA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKanca, Oguz论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPerson, Richard论文数: 0 引用数: 0 h-index: 0机构: GeneDx LLC, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACarter, Melissa T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPlatzer, Konrad论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzig, Germany Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchnabel, Franziska论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzig, Germany Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAAbou Jamra, Rami论文数: 0 引用数: 0 h-index: 0机构: Univ Leipzig, Inst Human Genet, Med Ctr, Leipzig, Germany Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARoberts, Amy E.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Cardiol, Boston, MA USA Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USANewburger, Jane W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Dept Cardiol, Boston, MA USA Harvard Med Sch, Dept Pediat, Boston, MA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARevah-Politi, Anya论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Inst Genom Med, Irving Med Ctr, New York, NY USA Columbia Univ, Precis Genom Lab, Irving Med Ctr, New York, NY USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGranadillo, Jorge L.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, St Louis Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASinnema, Margje论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Salpietro, Vincenzo论文数: 0 引用数: 0 h-index: 0机构: UCL, Dept Neuromuscular Disorders, Inst Neurol, Queen Sq, London, England Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACapra, Valeria论文数: 0 引用数: 0 h-index: 0机构: IRCCS Ist Giannina Gaslini, Unit Med Genet & Genom, Genoa, Italy Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGhaloul-Gonzalez, Lina论文数: 0 引用数: 0 h-index: 0机构: UPMC Childrens Hosp Pittsburgh, Dept Pediat, Div Genet & Genom Med, Pittsburgh, PA USA Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Simon, Marleen E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASweetser, David A.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Children, Div Med Genet & Metab, Boston, MA USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAGlinton, Kevin E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Dept Genet, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKirk, Susan E.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Hematol Oncol, Houston, TX USA Texas Childrens Canc & Hematol Ctr, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWangler, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAYamamoto, Shinya论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Pediat, Boston, MA 02115 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABellen, Hugo J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Neurosci, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [32] DEVELOPMENTAL DELAY AND DYSMORPHIC FEATURES ASSOCIATED WITH A PREVIOUSLY UNDESCRIBED DELETION ON CHROMOSOME-1JOURNAL OF MEDICAL GENETICS, 1995, 32 (08) : 636 - 637BARTON, JS论文数: 0 引用数: 0 h-index: 0机构: SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLAND SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLANDOLOUGHLIN, J论文数: 0 引用数: 0 h-index: 0机构: SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLAND SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLANDHOWELL, RT论文数: 0 引用数: 0 h-index: 0机构: SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLAND SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLANDORME, RL论文数: 0 引用数: 0 h-index: 0机构: SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLAND SOUTHMEAD GEN HOSP,S WESTERN REG CYTOGENET SERV,BRISTOL BS10 5NB,AVON,ENGLAND
- [33] Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disordersTRANSLATIONAL PSYCHIATRY, 2017, 7Xiao, Xiao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaWang, Lu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaWang, Chuang论文数: 0 引用数: 0 h-index: 0机构: Ningbo Univ, Sch Med, Prov Key Lab Pathophysiol, Dept Pharmacol, Ningbo, Zhejiang, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaYuan, Ti-Fei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Mental Hlth Ctr, Shanghai Key Lab Psychot Disorders, Shanghai, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaZhou, Dongsheng论文数: 0 引用数: 0 h-index: 0机构: Ningbo Kangning Hosp, Ningbo, Zhejiang, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaZheng, Fanfan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Inst Automat, Brainnetome Ctr, Beijing, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaLi, Lingyi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaGrigoroiu-Serbanescu, Maria论文数: 0 引用数: 0 h-index: 0机构: Alexandru Obregia Clin Psychiat Hosp, Biometr Psychiat Genet Res Unit, Bucharest, Romania Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Takahashi, Atsushi论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa, Japan Natl Cerebral & Cardiovasc Ctr, Omics Res Ctr, Lab Omics Informat, Osaka, Japan Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaKamatani, Yoichiro论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa, Japan Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaKubo, Michiaki论文数: 0 引用数: 0 h-index: 0机构: RIKEN Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaPreisig, Martin论文数: 0 引用数: 0 h-index: 0机构: CHU Vaudois, Dept Psychiat, Prilly, Switzerland Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaKutalik, Zoltan论文数: 0 引用数: 0 h-index: 0机构: CHU Vaudois, Inst Social & Prevent Med, Lausanne, Switzerland Swiss Inst Bioinformat, Lausanne, Switzerland Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaCastelao, Enrique论文数: 0 引用数: 0 h-index: 0机构: CHU Vaudois, Dept Psychiat, Prilly, Switzerland Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaPistis, Giorgio论文数: 0 引用数: 0 h-index: 0机构: CHU Vaudois, Dept Psychiat, Prilly, Switzerland Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaAmin, Najaf论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Epidemiol, Rotterdam, Netherlands Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R Chinavan Duijn, Cornelia M.论文数: 0 引用数: 0 h-index: 0机构: Erasmus Univ, Med Ctr, Dept Epidemiol, Rotterdam, Netherlands Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaForstner, Andreas J.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Life & Brain Ctr, Dept Gen, Bonn, Germany Univ Basel, Dept Biomed, Human Genom Res Grp, Basel, Switzerland Univ Basel, Dept Psychiat UPK, Basel, Switzerland Univ Basel Hosp, Inst Med Genet & Pathol, Basel, Switzerland Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China论文数: 引用数: h-index:机构:Hecker, Julian论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Inst Genom Math, Bonn, Germany Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaSchulze, Thomas G.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Inst Psychiat Phen & Gen, Munich, Germany Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaMueller-Myhsok, Bertram论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Psychiat, Munich, Germany Munich Cluster Syst Neurol SyNergy, Munich, Germany Univ Liverpool, Inst Translat Med, Liverpool, Merseyside, England Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaReif, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Frankfurt, Dept Psychiat Psychosomat Med & Psychotherapy, Frankfurt, Germany Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaMitchell, Philip B.论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Psychiat, Sydney, NSW, Australia Black Dog Inst, Sydney, NSW, Australia Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaMartin, Nicholas G.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaSchofield, Peter R.论文数: 0 引用数: 0 h-index: 0机构: Neurosci Res Australia, Sydney, NSW, Australia Univ New South Wales, Sch Med Sci, Sydney, NSW, Australia Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China论文数: 引用数: h-index:机构:Noethen, Markus M.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, Bonn, Germany Univ Bonn, Life & Brain Ctr, Dept Gen, Bonn, Germany Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaChang, Hong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaLuo, Xiong-Jian论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaFang, Yiru论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Mental Hlth Ctr, Div Mood Disorders, Shanghai, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaYao, Yong-Gang论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaZhang, Chen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Sch Med, Shanghai Mental Hlth Ctr, Div Mood Disorders, Shanghai, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaRietschel, Marcella论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R ChinaLi, Ming论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China Chinese Acad Sci, CAS Ctr Excellence Brain Sci & Intelligence Techn, Shanghai, Peoples R China Chinese Acad Sci & Yunnan Prov, Kunming Inst Zool, Key Lab Anim Models & Human Dis Mech, Kunming, Yunnan, Peoples R China
- [34] 335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic featuresGENE, 2012, 505 (02) : 384 - 387Alesi, Viola论文数: 0 引用数: 0 h-index: 0机构: S Pietro Fatebenefratelli Hosp, UOSD Med Genet, Rome, Italy CSS Mendel Inst, I-00198 Rome, ItalyBertoli, Marta论文数: 0 引用数: 0 h-index: 0机构: S Pietro Fatebenefratelli Hosp, UOSD Med Genet, Rome, Italy CSS Mendel Inst, I-00198 Rome, ItalyBarrano, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: S Pietro Fatebenefratelli Hosp, UOSD Med Genet, Rome, Italy CSS Mendel Inst, I-00198 Rome, ItalyTorres, Barbara论文数: 0 引用数: 0 h-index: 0机构: CSS Mendel Inst, I-00198 Rome, Italy CSS Mendel Inst, I-00198 Rome, ItalyPusceddu, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ AOU Sassari, Ist NeuroPsichiatria Infantile, Sassari, Italy CSS Mendel Inst, I-00198 Rome, ItalyPastorino, Myriam论文数: 0 引用数: 0 h-index: 0机构: Univ AOU Sassari, Ist NeuroPsichiatria Infantile, Sassari, Italy CSS Mendel Inst, I-00198 Rome, ItalyPerria, Chiara论文数: 0 引用数: 0 h-index: 0机构: Univ AOU Sassari, Ist NeuroPsichiatria Infantile, Sassari, Italy CSS Mendel Inst, I-00198 Rome, ItalyNardone, Anna Maria论文数: 0 引用数: 0 h-index: 0机构: Fdn Policlin Tor Vergata, UOC, Med Genet Lab, Rome, Italy CSS Mendel Inst, I-00198 Rome, ItalyNovelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: CSS Mendel Inst, I-00198 Rome, Italy CSS Mendel Inst, I-00198 Rome, ItalySerra, Gigliola论文数: 0 引用数: 0 h-index: 0机构: Univ AOU Sassari, Ist NeuroPsichiatria Infantile, Sassari, Italy CSS Mendel Inst, I-00198 Rome, Italy
- [35] TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROMEGENETIC COUNSELING, 2016, 27 (03): : 357 - 365Uctepe, E.论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, Turkey Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, TurkeyAktas, D.论文数: 0 引用数: 0 h-index: 0机构: Damagen Genet Diagnost Ctr, Ankara, Turkey Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, TurkeyAlikasifoglu, M.论文数: 0 引用数: 0 h-index: 0机构: Damagen Genet Diagnost Ctr, Ankara, Turkey Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, TurkeyGunduz, E.论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, Turkey Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, TurkeySonmez, F. M.论文数: 0 引用数: 0 h-index: 0机构: Dev Child Neurol Assoc, Tunali Hilmi Caddesi Bugday, Sokak Kozlar ishatu 6-28, Ankara, Turkey Hlth Sci Univ, Diskapi Yildirim Beyazit Training & Res Hosp, Dept Med Genet, Ankara, Turkey
- [36] PARTIAL MONOSOMY 3Q IN A BOY WITH SHORT STATURE, DEVELOPMENTAL DELAY, AND MILD DYSMORPHIC FEATURESJOURNAL OF MEDICAL GENETICS, 1989, 26 (11) : 729 - 730BRUETON, LA论文数: 0 引用数: 0 h-index: 0BARBER, JCK论文数: 0 引用数: 0 h-index: 0HUSON, SM论文数: 0 引用数: 0 h-index: 0WINTER, RM论文数: 0 引用数: 0 h-index: 0
- [37] Deletion of 8q24 in an Adult With Mild Dysmorphic Features, Developmental Delay, and Ketotic HypoglycemiaAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (06) : 1545 - 1549Solomon, Benjamin D.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USALange, Eileen论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAShubrook, Jay论文数: 0 引用数: 0 h-index: 0机构: Ohio Univ, Coll Osteopath Med, Dept Family Med, Athens, OH 45701 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAService, F. John论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Endocrinol, Rochester, MN USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAHerman, Gail论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Nationwide Childrens Hosp, Res Inst, Ctr Mol & Human Genet,Dept Pediat, Columbus, OH 43210 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAKarne, Rajaram J.论文数: 0 引用数: 0 h-index: 0机构: Ohio State Univ, Med Ctr, Dept Med, Div Endocrinol Diabet & Metab, Columbus, OH 43210 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAGorden, Phillip论文数: 0 引用数: 0 h-index: 0机构: NIDDKD, Clin Endocrinol Branch, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAMuenke, Maximilian论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USAStratakis, Constantine A.论文数: 0 引用数: 0 h-index: 0机构: Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, Program Dev Endocrinol & Genet, NIH, Bethesda, MD USA
- [38] TO REPORT OR NOT TO REPORT?-15Q11.2 (BP1-BP2) RECURRENT MICRODELETIONMEDICINE, 2022, 101 (30)Custodio, Sonia论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, PortugalMacedo, Catarina论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, PortugalSilveira-Santos, Rosario论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, PortugalRodrigues, Raquel论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, PortugalRolo, Eva论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, PortugalSousa, Ana Berta论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, PortugalSousa, Ana论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal Hosp Santa Maria, Ctr Hosp Univ Lisboa Norte, Serv Genet Med, Dept Pediat, Lisbon, Portugal
- [39] De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic featuresAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (09) : 1845 - 1851Douglas, Ganka论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USACho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USATelegrafi, Aida论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAWinter, Susan论文数: 0 引用数: 0 h-index: 0机构: Valley Childrens Hosp Cent Calif, Madera, CA USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USACarmichael, Jason论文数: 0 引用数: 0 h-index: 0机构: Valley Childrens Hosp Cent Calif, Madera, CA USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAZackai, Elaine H.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USADeardorff, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAHarr, Margaret论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Genet, Philadelphia, PA 19104 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAWilliams, Linford论文数: 0 引用数: 0 h-index: 0机构: UPMC, Childrens Hosp Philadelphia, Pittsburgh, PA USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAPsychogios, Apostolos论文数: 0 引用数: 0 h-index: 0机构: Univ Kentucky, Dept Pediat, Lexington, KY USA Univ Kentucky, Dept Internal Med, Lexington, KY USA Univ Kentucky, Dept Cardiol, Lexington, KY USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAErwin, Angelika L.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin Genet, Cleveland, OH USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAGrebe, Theresa论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Phoenix, AZ USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USARetterer, Kyle论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USAJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USA GeneDx, 205 Perry Pkwy, Gaithersburg, MD 20877 USA
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