खोज परिणाम - "Coffin–Siris syndrome"

Nail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome द्वारा Alba Navarro-Bielsa, Daniel Ruiz Ruiz-, Pilar Abenia-Usón, Tamara Gracia-Cazaña, Yolanda Gilaberte

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Anesthetic management in a child with Coffin Siris syndrome द्वारा Badal Parikh, Swayam Sahu, Amit Dua, V K Shankhyan

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Occurrence of sotos syndrome and coffin-siris syndrome in a family द्वारा Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, Wuh-Liang Hwu

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The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients द्वारा Elisabetta Prada, Camilla Meossi, Denise Piras Marafon, Federico Grilli, Giulietta Scuvera, Paola Giovanna Marchisio, Carlo Virginio Agostoni, Federica Natacci, Donatella Milani

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Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy द्वारा Rai-Hseng Hsu, Ni-Chung Lee, Ming-Tai Lin, Ting-An Yen, Yin-Hsiu Chien, Wuh-Liang Hwu

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Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature द्वारा Lalita Nemani, Ramachandra Barik, Amar Narayana Patnaik, Ramesh C Mishra, Amaresh M Rao, Pragati Kapur

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ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases द्वारा Xiaoyan Wang, Haiying Wu, Hui Sun, Lili Wang, Linqi Chen

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A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature द्वारा Guibin Bai, Rougang Yuan, Jian Yuan, Yanqin Liu, Shaozhi Zhao, Xinwen Zhang

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Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report द्वारा Dong-Ying Tao, Huan-Hong Niu, Jing-Jing Zhang, Hui-Qin Zhang, Ming-Hua Zeng, Sheng-Quan Cheng

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De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia द्वारा Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

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Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing द्वारा Guanting Lu, Qiongling Peng, Lianying Wu, Jian Zhang, Liya Ma

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Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot द्वारा Hairui Sun, Siyao Zhang, Jingyi Wang, Xiaoxue Zhou, Hongjia Zhang, Huixia Yang, Yihua He

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Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea द्वारा Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee

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