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Gene
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November 20, 2020
Whole exome sequencing for non-selective pediatric patients with hyperlipidemia
Xuyun Hu, Lamei Chen, Chunxiu Gong, et al.
Molecular Cytogenetics
|
February 5, 2015
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
Rongyu Chen, Chuan Li, Bobo Xie, et al.
Communications Medicine
|
November 14, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns
Chanjuan Hao, Xuyun Hu, Ruolan Guo, et al.
Pediatric Investigation
|
August 28, 2020
Whole-exome sequencing reveals two <i>de novo</i> variants in the <i>RBM20</i> gene in two Chinese patients with left ventricular non-compaction cardiomyopathy
Qiqing Sun, Jun Guo, Chanjuan Hao, et al.
European Journal of Medical Genetics
|
May 1, 2018
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
Guoqiang Li, Yufei Xu, Xuyun Hu, et al.
European Journal of Medical Genetics
|
November 16, 2018
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia
Cui Song, Niu Li, Xuyun Hu, et al.
Molecular Genetics & Genomic Medicine
|
July 4, 2019
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
Jun Guo, Zheng Li, Chanjuan Hao, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 30, 2015
[Establishment of hemophilia A patient-specific inducible pluripotent stem cells with urine cells]
Zhiqing Hu, Xuyun Hu, Jialun Pang, et al.
Orphanet Journal of Rare Diseases
|
September 30, 2021
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4
Yuanying Chen, Boliang Fang, Xuyun Hu, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 7, 2018
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Yufei Xu, Yulin Chen, Niu Li, et al.
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of 7
Search research articles
Search
Showing results (21-30 of 62) with videos related to
Sort By:
Page
of 7
Gene
|
November 20, 2020
Whole exome sequencing for non-selective pediatric patients with hyperlipidemia
Xuyun Hu, Lamei Chen, Chunxiu Gong, et al.
Molecular Cytogenetics
|
February 5, 2015
Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
Rongyu Chen, Chuan Li, Bobo Xie, et al.
Communications Medicine
|
November 14, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns
Chanjuan Hao, Xuyun Hu, Ruolan Guo, et al.
Pediatric Investigation
|
August 28, 2020
Whole-exome sequencing reveals two <i>de novo</i> variants in the <i>RBM20</i> gene in two Chinese patients with left ventricular non-compaction cardiomyopathy
Qiqing Sun, Jun Guo, Chanjuan Hao, et al.
European Journal of Medical Genetics
|
May 1, 2018
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
Guoqiang Li, Yufei Xu, Xuyun Hu, et al.
European Journal of Medical Genetics
|
November 16, 2018
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia
Cui Song, Niu Li, Xuyun Hu, et al.
Molecular Genetics & Genomic Medicine
|
July 4, 2019
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
Jun Guo, Zheng Li, Chanjuan Hao, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 30, 2015
[Establishment of hemophilia A patient-specific inducible pluripotent stem cells with urine cells]
Zhiqing Hu, Xuyun Hu, Jialun Pang, et al.
Orphanet Journal of Rare Diseases
|
September 30, 2021
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4
Yuanying Chen, Boliang Fang, Xuyun Hu, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 7, 2018
Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1
Yufei Xu, Yulin Chen, Niu Li, et al.
Page
of 7