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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 7, 2025
[Clinical phenotype and genetic analysis of four cases of Epileptic encephalopathy caused by PCDH19 mutations]
Lu Wei, Jiwen Wang, Ruen Yao, et al.
The Journal of Dermatology
|
October 14, 2015
Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children
Ruen Yao, Lili Wang, Yongguo Yu, et al.
Biomedicines
|
August 28, 2025
Combined Genetic and Transcriptional Study Unveils the Role of <i>DGAT1</i> Gene Mutations in Congenital Diarrhea
Jingqing Zeng, Jing Ma, Lan Wang, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 8, 2018
A rare unbalanced Y:autosome translocation in a Turner syndrome patient
Ruen Yao, Ding Yu, Jian Wang, et al.
The Journal of Dermatology
|
April 4, 2018
Cutis laxa in a patient with 1p36 deletion syndrome
Zhen Zhang, Jian Wang, Niu Li, et al.
Molecular Genetics & Genomic Medicine
|
December 20, 2018
Evaluation of copy number variant detection from panel-based next-generation sequencing data
Ruen Yao, Tingting Yu, Yanrong Qing, et al.
Genes
|
December 23, 2022
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients
Jie Tang, Niu Li, Guoqiang Li, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 6, 2023
Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome
Tingting Yu, Guoqiang Li, Chen Wang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 15, 2019
[Identification of a novel SYNGAP1 mutation in a child with intellectual disability]
Jing Lu, Yi Zhang, Cong Han, et al.
BMC Pediatrics
|
August 16, 2024
Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report
Lanlan Mi, Ruen Yao, Weiwei Guo, et al.
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Showing results (1-10 of 68) with videos related to
Sort By:
Page
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Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 7, 2025
[Clinical phenotype and genetic analysis of four cases of Epileptic encephalopathy caused by PCDH19 mutations]
Lu Wei, Jiwen Wang, Ruen Yao, et al.
The Journal of Dermatology
|
October 14, 2015
Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children
Ruen Yao, Lili Wang, Yongguo Yu, et al.
Biomedicines
|
August 28, 2025
Combined Genetic and Transcriptional Study Unveils the Role of <i>DGAT1</i> Gene Mutations in Congenital Diarrhea
Jingqing Zeng, Jing Ma, Lan Wang, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
January 8, 2018
A rare unbalanced Y:autosome translocation in a Turner syndrome patient
Ruen Yao, Ding Yu, Jian Wang, et al.
The Journal of Dermatology
|
April 4, 2018
Cutis laxa in a patient with 1p36 deletion syndrome
Zhen Zhang, Jian Wang, Niu Li, et al.
Molecular Genetics & Genomic Medicine
|
December 20, 2018
Evaluation of copy number variant detection from panel-based next-generation sequencing data
Ruen Yao, Tingting Yu, Yanrong Qing, et al.
Genes
|
December 23, 2022
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients
Jie Tang, Niu Li, Guoqiang Li, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
February 6, 2023
Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome
Tingting Yu, Guoqiang Li, Chen Wang, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
July 15, 2019
[Identification of a novel SYNGAP1 mutation in a child with intellectual disability]
Jing Lu, Yi Zhang, Cong Han, et al.
BMC Pediatrics
|
August 16, 2024
Concurrent de novo MACF1 mutation and inherited 16p13.11 microduplication in a preterm newborn with hypotonia, joint hyperlaxity and multiple congenital malformations: a case report
Lanlan Mi, Ruen Yao, Weiwei Guo, et al.
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of 7