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Shaoke Chen

Showing results (1-10 of 80) with videos related to

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Clinical Chemistry|June 6, 2015
Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant ClassificationShaoke Chen, Xuyun Hu, Yiping Shen
Medicine|April 14, 2020
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infantQiang Zhang, Shaoke Chen, Zailong Qin, et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|December 25, 2014
[ASS1 gene mutation in a neonate with citrullinemia type I]Bobo Xie, Rongyu Chen, Jin Wang, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Further defining the critical genes for the 4q21 microdeletion disorderXuyun Hu, Xiaoli Chen, Bingbing Wu, et al.
Hemoglobin|July 17, 2015
First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese PatientSheng He, Qiang Zhang, Chenguang Zheng, et al.
Hemoglobin|April 22, 2015
Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese FamilySheng He, Chenguang Zheng, Dahua Meng, et al.
Molecular Genetics & Genomic Medicine|March 2, 2022
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation familyXianda Wei, Guori Huang, Baoheng Gui, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 3, 2021
[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi]Guoxing Geng, Qi Yang, Xin Fan, et al.
Arquivos Brasileiros De Endocrinologia E Metabologia|December 4, 2014
Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidismChunyun Fu, Shaoke Chen, Rongyu Chen, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 6, 2014
Prevention and control of Hb Bart's disease in Guangxi Zhuang Autonomous Region, ChinaSheng He, Qiang Zhang, Dongming Li, et al.
Pageof 8

Showing results (1-10 of 80) with videos related to

Sort By:
Pageof 8
Clinical Chemistry|June 6, 2015
Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant ClassificationShaoke Chen, Xuyun Hu, Yiping Shen
Medicine|April 14, 2020
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infantQiang Zhang, Shaoke Chen, Zailong Qin, et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics|December 25, 2014
[ASS1 gene mutation in a neonate with citrullinemia type I]Bobo Xie, Rongyu Chen, Jin Wang, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Further defining the critical genes for the 4q21 microdeletion disorderXuyun Hu, Xiaoli Chen, Bingbing Wu, et al.
Hemoglobin|July 17, 2015
First Detection of a Splice Acceptor Site β-Thalassemia Mutation: IVS-I-130 (HBB: c.93-1G > C) in a Chinese PatientSheng He, Qiang Zhang, Chenguang Zheng, et al.
Hemoglobin|April 22, 2015
Hb H Hydrops Fetalis Syndrome Caused by Association of the - -(SEA) Deletion and Hb Constant Spring (HBA2: c.427T > C) Mutation in a Chinese FamilySheng He, Chenguang Zheng, Dahua Meng, et al.
Molecular Genetics & Genomic Medicine|March 2, 2022
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation familyXianda Wei, Guori Huang, Baoheng Gui, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 3, 2021
[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi]Guoxing Geng, Qi Yang, Xin Fan, et al.
Arquivos Brasileiros De Endocrinologia E Metabologia|December 4, 2014
Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidismChunyun Fu, Shaoke Chen, Rongyu Chen, et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 6, 2014
Prevention and control of Hb Bart's disease in Guangxi Zhuang Autonomous Region, ChinaSheng He, Qiang Zhang, Dongming Li, et al.
Pageof 8