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- [21] Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderEuropean Journal of Human Genetics, 2024, 32 : 350 - 356Fatimah Albuainain论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsYuwei Shi论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsSarah Lor-Zade论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsUlrike Hüffmeier论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsMelissa Pauly论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsAndré Reis论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsLaurence Faivre论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsJulien Maraval论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsAnge-Line Bruel论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsFrédéric Tran Mau Them论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsTobias B. Haack论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsUte Grasshoff论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsVeronka Horber论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsRachel Schot论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsMarjon van Slegtenhorst论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsMartina Wilke论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical GeneticsTahsin Stefan Barakat论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC University Medical Center,Department of Clinical Genetics
- [22] Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorderEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 (03) : 350 - 356Albuainain, Fatimah论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsShi, Yuwei论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsLor-Zade, Sarah论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsHueffmeier, Ulrike论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, D-91054 Erlangen, Germany Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsPauly, Melissa论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, D-91054 Erlangen, Germany Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsReis, Andre论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, D-91054 Erlangen, Germany Ctr Rare Dis Erlangen ZSEER, Erlangen, Germany Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands论文数: 引用数: h-index:机构:Maraval, Julien论文数: 0 引用数: 0 h-index: 0机构: Univ Burgundy & Franche Comte, Inserm UMR1231, Team GAD, F-21000 Dijon, France Dijon Bourgogne Univ Hosp, Ctr Reference Deficiences Intellectuelles Causes R, F-21000 Dijon, France Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Univ Burgundy & Franche Comte, Inserm UMR1231, Team GAD, F-21000 Dijon, France Dijon Bourgogne Univ Hosp, Funct Unit Innovat Diag Rare Dis, F-21000 Dijon, France Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands论文数: 引用数: h-index:机构:Haack, Tobias B.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsGrasshoff, Ute论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsHorber, Veronka论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp Tubingen, Dept Pediat Neurol & Dev Med, Tubingen, Germany Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsSchot, Rachel论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Discovery Unit, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlandsvan Slegtenhorst, Marjon论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsWilke, Martina论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, NetherlandsBarakat, Tahsin Stefan论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Discovery Unit, Med Ctr, Rotterdam, Netherlands Erasmus MC, ENCORE Expertise Ctr Neurodev Disorders, Rotterdam, Netherlands Erasmus MC Univ, Dept Clin Genet, Med Ctr, Rotterdam, Netherlands
- [23] Expanding the Phenotypic and Genotypic Spectrum of ARFGEF1-Related Neurodevelopmental DisorderFRONTIERS IN MOLECULAR NEUROSCIENCE, 2022, 15Xu, Lu论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaZhou, Youfeng论文数: 0 引用数: 0 h-index: 0机构: Affiliated Hosp Fujian Med Univ, Fujian Prov Matern & Childrens Hosp, Dept Pediat, Fuzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaRen, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaXu, Chenlu论文数: 0 引用数: 0 h-index: 0机构: Beijing Chigene Translat Med Res Ctr Co Ltd, Beijing, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaRen, Rongna论文数: 0 引用数: 0 h-index: 0机构: 900 Hosp Joint Logist Team, Dept Pediat & Neurosurg, Fuzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaYan, Xuke论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaLi, Xuelian论文数: 0 引用数: 0 h-index: 0机构: Anhui Prov Childrens Hosp, Dept Pediat Neurol, Hefei, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaYang, Huimin论文数: 0 引用数: 0 h-index: 0机构: Inner Mongolia Maternal & Child Hlth Care Hosp, Dept Pediat, Hohhot, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaXu, Xuebin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaGuo, Xiaotong论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaSheng, Guoxia论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaHua, Yi论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaYuan, Zhefeng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaWang, Shugang论文数: 0 引用数: 0 h-index: 0机构: Beijing Chigene Translat Med Res Ctr Co Ltd, Beijing, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaGu, Weiyue论文数: 0 引用数: 0 h-index: 0机构: Beijing Chigene Translat Med Res Ctr Co Ltd, Beijing, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaSun, Dan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Wuhan Childrens Hosp, Tongji Med Coll, Dept Pediat Neurol, Wuhan, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R ChinaGao, Feng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China Zhejiang Univ, Childrens Hosp, Natl Clin Res Ctr Child Hlth, Dept Neurol,Sch Med, Hangzhou, Peoples R China
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- [30] Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 (07) : 824 - 833Lyon, Gholson J.论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, George A Jervis Clin, Staten Isl, NY 10314 USA CUNY, Grad Ctr, Biol PhD Program, New York, NY 10016 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAVedaie, Marall论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USABeisheim, Travis论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAPark, Agnes论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAMarchi, Elaine论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAGottlieb, Leah论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Chem, Philadelphia, PA USA Univ Penn, Abramson Family Canc Res Inst, Perelman Sch Med, Philadelphia, PA USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAHsieh, Tzung-Chien论文数: 0 引用数: 0 h-index: 0机构: Rhein Friedrich Wilhelms Univ Bonn, Univ Hosp Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAKlinkhammer, Hannah论文数: 0 引用数: 0 h-index: 0机构: Rhein Friedrich Wilhelms Univ Bonn, Univ Hosp Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany Rhein Friedrich Wilhelms Univ Bonn, Univ Hosp Bonn, Inst Med Biometry Informat & Epidemiol, Bonn, Germany New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USASandomirsky, Katherine论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USACheng, Hanyin论文数: 0 引用数: 0 h-index: 0机构: HematoLogics Inc Seattle, Seattle, WA USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAStarr, Lois J.论文数: 0 引用数: 0 h-index: 0机构: Univ Nebraska Med Ctr, Dept Pediat, Omaha, NE USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAPreddy, Isabelle论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USATseng, Marcellus论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USALi, Quan论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Univ Hlth Network, Princess Margaret Canc Ctr, Toronto, ON M5G2C1, Canada New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAHu, Yu论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAWang, Kai论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Raymond G Perelman Ctr Cellular & Mol Therapeut, Philadelphia, PA 19104 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USACarvalho, Ana论文数: 0 引用数: 0 h-index: 0机构: Coimbra Hosp & Univ Ctr, Pediat Hosp, Dept Med Genet, Coimbra, Portugal New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAMartinez, Francisco论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ & Politecn La Fe, Unidad Genet, Valencia 46026, Spain New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USACaro-Llopis, Alfonso论文数: 0 引用数: 0 h-index: 0机构: Inst Invest Sanitaria La Fe, Grp Invest Traslac Genet, Valencia 46026, Spain New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAGavin, Maureen论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, George A Jervis Clin, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAAmble, Karen论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, George A Jervis Clin, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAKrawitz, Peter论文数: 0 引用数: 0 h-index: 0机构: Rhein Friedrich Wilhelms Univ Bonn, Univ Hosp Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAMarmorstein, Ronen论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Chem, Philadelphia, PA USA Univ Penn, Abramson Family Canc Res Inst, Perelman Sch Med, Philadelphia, PA USA Univ Penn, Perelman Sch Med, Dept Biochem & Biophys, Philadelphia, PA USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USAHerr-Israel, Ellen论文数: 0 引用数: 0 h-index: 0机构: New York State Inst Basic Res Dev Disabil, George A Jervis Clin, Staten Isl, NY 10314 USA New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA