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Cytogenetic and Genome Research
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December 29, 2016
A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay
Liyang Liang, Yingjun Xie, Yiping Shen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
December 29, 2021
[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome]
Xinlong Zhou, Qingming Wang, Sini Zou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
January 10, 2021
[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome]
Xinlong Zhou, Qingming Wang, Yanhui Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
March 22, 2022
[Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations]
Shuangxi Cheng, Qingming Wang, Xiaochun Hong, et al.
Nanoscale Research Letters
|
February 25, 2014
Mode manipulation and near-THz absorptions in binary grating-graphene layer structures
Haiming Yuan, Hanning Yang, Pengzi Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 6, 2021
[Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome]
Jianhua Luo, Qingming Wang, Shuangxi Cheng, et al.
Frontiers in Genetics
|
April 3, 2025
Functional analysis of a novel <i>FBN1</i> deep intronic variant causing Marfan syndrome in a Chinese patient
Qingming Wang, Fang Zhang, Xinlong Zhou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
March 11, 2026
[Clinical phenotype and genetic analysis of a child with Acid-labile subunit deficiency due to variant of IGFALS gene]
Yanli Wang, Zhijin Lu, Shuangxi Cheng, et al.
BMC Medical Genomics
|
May 9, 2020
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
Qingming Wang, Pengliang Chen, Jianxin Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
August 8, 2021
[Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia]
Huihua Yuan, Yanli Wang, Qingming Wang, et al.
Page
of 6
Search research articles
Search
Showing results (11-20 of 59) with videos related to
Sort By:
Page
of 6
Cytogenetic and Genome Research
|
December 29, 2016
A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay
Liyang Liang, Yingjun Xie, Yiping Shen, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
December 29, 2021
[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome]
Xinlong Zhou, Qingming Wang, Sini Zou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
January 10, 2021
[Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome]
Xinlong Zhou, Qingming Wang, Yanhui Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
March 22, 2022
[Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations]
Shuangxi Cheng, Qingming Wang, Xiaochun Hong, et al.
Nanoscale Research Letters
|
February 25, 2014
Mode manipulation and near-THz absorptions in binary grating-graphene layer structures
Haiming Yuan, Hanning Yang, Pengzi Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 6, 2021
[Analysis of clinical manifestation and a mosaic frameshift variant of the KMT2D gene in a Chinese patient with Kabuki syndrome]
Jianhua Luo, Qingming Wang, Shuangxi Cheng, et al.
Frontiers in Genetics
|
April 3, 2025
Functional analysis of a novel <i>FBN1</i> deep intronic variant causing Marfan syndrome in a Chinese patient
Qingming Wang, Fang Zhang, Xinlong Zhou, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
March 11, 2026
[Clinical phenotype and genetic analysis of a child with Acid-labile subunit deficiency due to variant of IGFALS gene]
Yanli Wang, Zhijin Lu, Shuangxi Cheng, et al.
BMC Medical Genomics
|
May 9, 2020
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
Qingming Wang, Pengliang Chen, Jianxin Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
August 8, 2021
[Analysis of RUNX2 gene variant in a Chinese patient with cleidocranial dysplasia]
Huihua Yuan, Yanli Wang, Qingming Wang, et al.
Page
of 6