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- [1] A de novo ARID1A variant in a child with Coffin-Siris syndrome and hepatoblastomaEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 226 - 227Masotto, Barbara论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainCarcamo, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp El Paso, El Paso, TX USA Sistemas Genom, Valencia, SpainBaquero Vaquer, Anna论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainFerrer Avargues, Rosario论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainMoreno Saez, Yolanda论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainRiva, Natali论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainAndujar Pastor, Alfonso论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainFelipe Ponce, Vanesa论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainMesa-Risquez, Elena论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainSanchez Guiu, Isabel论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainDolores Ruiz, Maria论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainMartinez Rubio, Roser论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainCasan, Clara论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainSerrano Rodriguez, Nuria论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainArilla Codoner, Angela论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainRodriguez de Pablos, Raquel论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainMenor Ferrandiz, Carlos论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, SpainGarcia Vuelta, Jaime论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainGiros Perez, Amparo论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainSanchez Ibanez, Maria论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainRomera Lopez, Alejandro论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainMoya Aguilera, Christian Martin论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainMartinez Granero, Francisco论文数: 0 引用数: 0 h-index: 0机构: Sistemas Genom, Valencia, Spain Sistemas Genom, Valencia, SpainCeballos, Delia论文数: 0 引用数: 0 h-index: 0机构: CRIT Guerrero, Mexico City, Mexico Sistemas Genom, Valencia, SpainZapata Aldana, Eugenio论文数: 0 引用数: 0 h-index: 0机构: CRIT Guerrero, Mexico City, Mexico Sistemas Genom, Valencia, Spain
- [2] Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4Genes & Genomics, 2022, 44 : 1061 - 1070Mingjie Liu论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalLinlin Wan论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalChunrong Wang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalHongyu Yuan论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalYun Peng论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalNa Wan论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalZhichao Tang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalXinrong Yuan论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalDaji Chen论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalZhe Long论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalYuting Shi论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalRong Qiu论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalBeisha Tang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalHong Jiang论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya HospitalZhao Chen论文数: 0 引用数: 0 h-index: 0机构: Central South University,Department of Neurology, Xiangya Hospital
- [3] Coffin-Siris syndrome in two chinese patients with novel pathogenic variants of ARID1A and SMARCA4GENES & GENOMICS, 2022, 44 (09) : 1061 - 1070Liu, Mingjie论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaWan, Linlin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaWang, Chunrong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Pathol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaYuan, Hongyu论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaPeng, Yun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaWan, Na论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaTang, Zhichao论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaYuan, Xinrong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaChen, Daji论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaLong, Zhe论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp 2, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaShi, Yuting论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegene, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaQiu, Rong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Comp Sci & Engn, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaTang, Beisha论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent South Univ, Natl Clin Res Ctr Geriatr Dis, Changsha, Hunan, Peoples R China Cent South Univ, Lab Med Genet, Changsha, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegene, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaJiang, Hong论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Sch Basic Med Sci, Changsha, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent South Univ, Natl Clin Res Ctr Geriatr Dis, Changsha, Hunan, Peoples R China Cent South Univ, Lab Med Genet, Changsha, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegene, Changsha, Peoples R China Cent South Univ, Natl Int Collaborat Res Ctr Med Metabol, Changsha, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R ChinaChen, Zhao论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China Cent South Univ, Key Lab Hunan Prov Neurodegenerat Disorders, Changsha, Hunan, Peoples R China Cent South Univ, Natl Clin Res Ctr Geriatr Dis, Changsha, Hunan, Peoples R China Hunan Int Sci & Technol Cooperat Base Neurodegene, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Neurol, Changsha, Hunan, Peoples R China
- [4] Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndromePEDIATRICS INTERNATIONAL, 2018, 60 (04) : 378 - 380Natsume, Takenori论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, Japan Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, JapanTakano, Kyoko论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano, Japan Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, Nagano, Japan Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, JapanMotobayashi, Mitsuo论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Neonatol & Dev Med, Matsumoto, Nagano, Japan Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, JapanKosho, Tomoki论文数: 0 引用数: 0 h-index: 0机构: Shinshu Univ, Sch Med, Dept Med Genet, Matsumoto, Nagano, Japan Shinshu Univ Hosp, Ctr Med Genet, Matsumoto, Nagano, Japan Shinshu Univ, Sch Med, Dept Pediat, Matsumoto, Nagano, Japan
- [5] Resolving pathogenicity of non-truncating ARID1B variants in Coffin-Siris syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 467 - 468Bosch, Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, GermanyGuese, Esther论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, GermanyKirchner, Philipp论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, GermanyHebebrand, Moritz论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, GermanyEkici, Arif B.论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, GermanyReis, 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, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, GermanyVasileiou, Georgia论文数: 0 引用数: 0 h-index: 0机构: Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany
- [6] Three Novel ARID1B Variations in Coffin-Siris Syndrome PatientsNEUROLOGY INDIA, 2022, 70 (05) : 2174 - 2179Tan, Yuxia论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R China Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo, Shandong, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaChen, Jun论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Qingdao Women & Childrens Hosp, Dept Neurol & Rehabil, 6 Tongfu Rd, Qingdao 266034, Shandong, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaLi, Yutang论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Qingdao Women & Childrens Hosp, Dept Neurol & Rehabil, 6 Tongfu Rd, Qingdao 266034, Shandong, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaLiu, Yedan论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaWang, Yu论文数: 0 引用数: 0 h-index: 0机构: Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo, Shandong, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaXia, Shungang论文数: 0 引用数: 0 h-index: 0机构: Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo, Shandong, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaChen, Liping论文数: 0 引用数: 0 h-index: 0机构: Zibo City Maternal & Child Hlth Hosp, Dept Pediat, Zibo, Shandong, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaWei, Wei论文数: 0 引用数: 0 h-index: 0机构: Beijing Kangso Med Inspect Co Ltd, Bldg 10,Zone C, Beijing 100195, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R ChinaChen, Zongbo论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R China Qingdao Univ, Affiliated Hosp, Dept Pediat, 59 Haier Rd, Qingdao 266000, Peoples R China
- [7] A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1BNEUROENDOCRINOLOGY LETTERS, 2020, 41 (06) : 285 - 289Park, Hyojung论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South KoreaKim, Min-Sun论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South KoreaKim, Jiyeon论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South KoreaJang, Ja-Hyun论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South KoreaChoi, Jong-Moon论文数: 0 引用数: 0 h-index: 0机构: GC Genome, Yongin, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South KoreaLee, Sae-Mi论文数: 0 引用数: 0 h-index: 0机构: GC Genome, Yongin, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea论文数: 引用数: h-index:机构:Jin, Dong-Kyu论文数: 0 引用数: 0 h-index: 0机构: Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea Sungkyunkwan Univ, Samsung Med Ctr, Dept Pediat, Sch Med, 81 Irwon Ro, Seoul 06351, South Korea
- [8] Two novel distinguishable entities within the Coffin-Siris syndrome spectrum caused by specific missense variants in ARID1A and ARID1BEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1441 - 1442van der Sluijs, Eline论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ Med Ctr, Clin Genet, Leiden, Netherlands Leiden Univ Med Ctr, Clin Genet, Leiden, NetherlandsValencia, Alfredo M.论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA Leiden Univ Med Ctr, Clin Genet, Leiden, NetherlandsPatil, Ajinka论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Leiden Univ Med Ctr, Clin Genet, Leiden, NetherlandsDingemans, Alexander论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Leiden Univ Med Ctr, Clin Genet, Leiden, Netherlandsde Vries, Bert论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Leiden Univ Med Ctr, Clin Genet, Leiden, NetherlandsSadikovic, Bekim论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Verspeeten Clin Genome Ctr, London, ON, Canada Leiden Univ Med Ctr, Clin Genet, Leiden, NetherlandsAlders, Marielle论文数: 0 引用数: 0 h-index: 0机构: Amsterdam UMC, Dept Clin Genet, Locatie AMC, Amsterdam, Netherlands Leiden Univ Med Ctr, Clin Genet, Leiden, NetherlandsKadoch, Cigall论文数: 0 引用数: 0 h-index: 0机构: Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Howard Hughes Med Inst, Chevy Chase, MD USA Leiden Univ Med Ctr, Clin Genet, Leiden, Netherlands论文数: 引用数: h-index:机构:
- [9] The ARID1B spectrum: From non-syndromic intellectual disability to Coffin-Siris syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 830 - 830van der Sluijs, E. P. J.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Leiden, Netherlands Leiden Univ, Med Ctr, Leiden, NetherlandsClayton-Smith, J.论文数: 0 引用数: 0 h-index: 0机构: Manchester Ctr Genom Med, Manchester, Lancs, England Leiden Univ, Med Ctr, Leiden, NetherlandsSanten, G. W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Leiden, Netherlands Leiden Univ, Med Ctr, Leiden, Netherlands
- [10] Recurrence of ARID1B-related Coffin-Siris Syndrome by possible gonadal mosaicismCLINICAL DYSMORPHOLOGY, 2023, 32 (04) : 180 - 183Uctepe, Eyyup论文数: 0 引用数: 0 h-index: 0机构: Acibadem Ankara Tissue Typing Lab, Ankara, Turkiye Acibadem Ankara Tissue Typing Lab, Ankara, TurkiyeErguner, Bekir论文数: 0 引用数: 0 h-index: 0机构: Sabanci Univ, Dept Mol Biol Genet & Bioengn, Tuzla, Istanbul, Turkiye Acibadem Ankara Tissue Typing Lab, Ankara, TurkiyeSonmez, Fatma Mujgan论文数: 0 引用数: 0 h-index: 0机构: Karadeniz Tech Univ, Fac Med, Dept Child Neurol, Trabzon, Turkiye Private Off, Child Neurol, Trabzon, Turkiye Private Off, Child Neurol, 102 3,Cinnah Cd, TR-06690 Ankara, Turkiye Acibadem Ankara Tissue Typing Lab, Ankara, Turkiye