Clinical and genetic analysis for four Chinese families with Prader–Willi syndrome

Endocrine ◽  
2009 ◽  
Vol 36 (1) ◽  
pp. 37-44 ◽  
Author(s):  
Yu-wen Zhang ◽  
Hui-ying Jia ◽  
Jie Hong ◽  
Yan Ge ◽  
Hui-jie Zhang ◽  
...  
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Genetic Analysis ◽  
Prader Willi Syndrome ◽  
Chinese Families

scholarly journals Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Xiangdong Kong ◽  
Xingjian Zhong ◽  
Lina Liu ◽  
Siying Cui ◽  
Yuxia Yang ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Analysis ◽  
Becker Muscular Dystrophy ◽  
Chinese Families

Clinical and genetic analysis of two Chinese families with benign familial neonatal convulsions

2005 ◽  
Vol 15 (8) ◽  
pp. 757-760
Author(s):  
Li Haiyan ◽  
Tang Beisha ◽  
Xia Kun ◽  
Cao Guifang ◽  
Shen Lu ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Chinese Families ◽  
Neonatal Convulsions

scholarly journals Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy

2021 ◽  
Author(s):  
Siwen Liu ◽  
Lin Li ◽  
Hairong Wu ◽  
Pei Pei ◽  
Xuefei Zheng ◽  
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Prenatal Diagnosis ◽  
Genetic Analysis ◽  
Chinese Families

Clinical characterization and genetic analysis of TRPV4-related skeletal dysplasias in 4 Chinese families

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Author(s):  
Yue Chi ◽  
Qianqian Pang ◽  
Lijun Xu ◽  
Yan Jiang ◽  
Mei Li ◽  
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Keyword(s):  
Genetic Analysis ◽  
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Skeletal Dysplasias

Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China

2014 ◽  
Vol 30 (12) ◽  
pp. 2109-2114 ◽  
Author(s):  
Jianbo Shu ◽  
Xiqian Lv ◽  
Shuzhen Jiang ◽  
Yuqin Zhang ◽  
Chunhua Zhang ◽  
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Keyword(s):  
Genetic Analysis ◽  
Carrier Frequency ◽  
Northern China ◽  
Chinese Families

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

2008 ◽  
Vol 86 (8) ◽  
pp. 906-910 ◽  
Author(s):  
A Schulze ◽  
C Hansen ◽  
P Baekgaard ◽  
S Blichfeldt ◽  
MB Petersen ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Clinical Features ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Prader Willi Syndrome

scholarly journals Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism

2020 ◽  
Author(s):  
Chenyang Xu ◽  
Yanbao Xiang ◽  
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Yunzhi Xu ◽  
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Genetic Analysis ◽  
Oculocutaneous Albinism ◽  
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