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Showing page 1 of results 1 - 10 of about 11 pages

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NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up | ESPE2019
Xuyun Hu; Di WU; Yuchuan Li; Chunxiu Gong; Yiping Shen
http://abstracts.eurospe.org/hrp/0092/hrp0092P3-154
Published: 2019-08-22

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New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development | ESPE2019
Yufei Xu; Yirou Wang; Niu Li; Ruen Yao; Guoqiang Li; Juan Li; Yu Ding; Yao Chen; Xiaodong Huang; Yuling Chen; Yanrong Qing; Ting
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-277
Published: 2019-08-22

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The Phenotypic Spectrum of Kabuki Syndrome in Patients of Chinese Descent | ESPE2019
Yirou Wang; Niu Li; Zhe Su; Yufei Xu; Shijian Liu; Yao Chen; Xin Li; Yiping Shen; Jian Wang; Xiumin Wang; Olaf Bodamer
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-225
Published: 2019-08-22

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NSD2 Mutation in a Family with a New Intellectual Disability and Short Stature Syndrome: a 7.5 Years Follow-Up | ESPE2019
Xuyun Hu; Di WU; Yuchuan Li; Chunxiu Gong; Yiping Shen
http://abstracts.eurospe.org/hrp/0092/hrp0092p3-154.html
Published: 2019-08-22

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New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development | ESPE2019
Yufei Xu; Yirou Wang; Niu Li; Ruen Yao; Guoqiang Li; Juan Li; Yu Ding; Yao Chen; Xiaodong Huang; Yuling Chen; Yanrong Qing; Ting
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-277.html
Published: 2019-08-22

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The Phenotypic Spectrum of Kabuki Syndrome in Patients of Chinese Descent | ESPE2019
Yirou Wang; Niu Li; Zhe Su; Yufei Xu; Shijian Liu; Yao Chen; Xin Li; Yiping Shen; Jian Wang; Xiumin Wang; Olaf Bodamer
http://abstracts.eurospe.org/hrp/0092/hrp0092p1-225.html
Published: 2019-08-22

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A Patient with Turner Syndrome (45X/46XX) and Congenital Adrenal Hyperplasia | ESPE2018
Yirou Wang; Yu Ding; Guoying Chang; Yao Chen; Yiping Shen; Xiumin Wang; Jian Wang
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p263.htm
Published: 2018-08-28

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A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review | ESPE2018
Di Wu; Xuyun Hu; Xiaoqiao Li; Liya Wei; Chang Su; Jiajia Chen; Miao Qin; Chunxiu Gong; Yiping Shen
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p229.htm
Published: 2018-08-28

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Targeted/Exome Sequencing Identified Mutations in 55 Chinese Children Diagnosed with Noonan Syndrome and a Autosomal Recessive form Associated with LZTR1 Variants | ESPE2018
Xin Li; Ruen Yao; Yao Chen; Guoying Chang; Yu Ding; Juan Li; Yiping Shen; Xiumin Wang; Jian Wang
http://abstracts.eurospe.org/hrp/0089/hrp0089p2-p264.htm
Published: 2018-08-28

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Clinical and Molecular Genetic Characterization of Two Patients due to Mutations | ESPE2018
Yu Ding; Niu Li; Guoying Chang; Juan Li; Ruen Yao; Yiping Shen; Jian Wang; Xiaodong Huang; Xiumin Wang
http://abstracts.eurospe.org/hrp/0089/hrp0089p3-p190.htm
Published: 2018-08-28

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