Search research articles
Contact Us
Filters
Showing results (11-20 of 38) with videos related to
Page
of 4
Sort By:
Plos Genetics
|
July 26, 2012
The Caenorhabditis elegans gene mfap-1 encodes a nuclear protein that affects alternative splicing
Long Ma, Xiaoyang Gao, Jintao Luo, et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences
|
December 3, 2020
Biochemical and genetic characteristics of 40 neonates with carnitine deficiency
Xiaoqiang Zhou, Yanling Teng, Siyuan Lin-Peng, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 14, 2019
[Prenatal diagnosis for 30 women carrying a FMR1 mutation]
Wen Huang, Jin Xue, Huaixing Kang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 2, 2020
Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome
Xuanyu Jiang, Yanling Teng, Xin Chen, et al.
Frontiers in Pediatrics
|
August 18, 2023
A <i>de novo</i> heterozygous <i>POU3F3</i> genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature
Hongyun Zhang, Siyuan Linpeng, Yanling Teng, et al.
Molecular Genetics & Genomic Medicine
|
January 17, 2020
A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree
Yingdi Liu, Jinjie Xue, Zhuo Li, et al.
Frontiers in Genetics
|
January 23, 2023
Two novel variants in <i>CEP152</i> caused Seckel syndrome 5 in a Chinese family
Li Zhang, Yanling Teng, Haoran Hu, et al.
International Journal of Molecular Sciences
|
July 27, 2024
O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells
Hua Teng, Siyi Chen, Fang Liu, et al.
Annals of Laboratory Medicine
|
August 25, 2020
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers
Jianyan Pan, Chunhua Zhang, Yanling Teng, et al.
Biomed Research International
|
December 25, 2018
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in <i>OFD1</i>
Siyuan Linpeng, Jing Liu, Jianyan Pan, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 38) with videos related to
Sort By:
Page
of 4
Plos Genetics
|
July 26, 2012
The Caenorhabditis elegans gene mfap-1 encodes a nuclear protein that affects alternative splicing
Long Ma, Xiaoyang Gao, Jintao Luo, et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences
|
December 3, 2020
Biochemical and genetic characteristics of 40 neonates with carnitine deficiency
Xiaoqiang Zhou, Yanling Teng, Siyuan Lin-Peng, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|
September 14, 2019
[Prenatal diagnosis for 30 women carrying a FMR1 mutation]
Wen Huang, Jin Xue, Huaixing Kang, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 2, 2020
Six novel Mutation analysis of the androgen receptor gene in 17 Chinese patients with androgen insensitivity syndrome
Xuanyu Jiang, Yanling Teng, Xin Chen, et al.
Frontiers in Pediatrics
|
August 18, 2023
A <i>de novo</i> heterozygous <i>POU3F3</i> genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature
Hongyun Zhang, Siyuan Linpeng, Yanling Teng, et al.
Molecular Genetics & Genomic Medicine
|
January 17, 2020
A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree
Yingdi Liu, Jinjie Xue, Zhuo Li, et al.
Frontiers in Genetics
|
January 23, 2023
Two novel variants in <i>CEP152</i> caused Seckel syndrome 5 in a Chinese family
Li Zhang, Yanling Teng, Haoran Hu, et al.
International Journal of Molecular Sciences
|
July 27, 2024
O-Sialoglycoprotein Endopeptidase Deficiency Impairs Proteostasis and Induces Autophagy in Human Embryonic Stem Cells
Hua Teng, Siyi Chen, Fang Liu, et al.
Annals of Laboratory Medicine
|
August 25, 2020
Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers
Jianyan Pan, Chunhua Zhang, Yanling Teng, et al.
Biomed Research International
|
December 25, 2018
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in <i>OFD1</i>
Siyuan Linpeng, Jing Liu, Jianyan Pan, et al.
Page
of 4