Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
Heliyon|March 8, 2024
A novel MMUT splicing variant causing mild methylmalonic acidemia phenotypeXinjie Zhang, Xiaowei Xu, Jianbo Shu, et al.
Molecular Biology Reports|August 8, 2024
Identification of the synonymous variant c.3141G > A in TNRC6B gene that altered RNA splicing by minigene assayFeiyu Zhou, Hongping Zhong, Bo Wu, et al.
BMC Medical Genetics|May 24, 2019
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiencyPing Wang, Fengying Cai, Lirong Cao, et al.
Nephrology (Carlton, Vic.)|October 14, 2024
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1Xiaoyu Liu, Wenchao Sheng, Nan Liu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|January 23, 2024
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuriaJinying Wu, Yaqiong Cui, Tao Liu, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|November 12, 2020
[Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency]Jianbo Shu, Fengying Cai, Xiaowei Xu, et al.
Molecular Genetics & Genomic Medicine|September 22, 2020
The spectrum of CYP21A2 gene mutations in patients with classic salt wasting form of 2l-hydroxylase deficiency in a Chinese cohortYang Liu, Jie Zheng, Nan Liu, et al.
Orphanet Journal of Rare Diseases|May 30, 2026
Succinic semialdehyde dehydrogenase deficiency: exploring the relationship between ALDH5A1 variants and molecular effect on SSADHDandan Yan, Xiangyu Liu, Chunyu Gu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|August 14, 2021
Phenotypic and genotypic analysis of children with methylmalonic academia: A single-center study in China and a recent literature reviewChao Wang, Yang Liu, Xinjie Zhang, et al.
American Journal of Medical Genetics. Part A|November 5, 2024
Delayed Diagnosis of Spinal Muscular Atrophy in Two Chinese Families due to Novel SMN1 DeletionsYan Dong, Shuyue Zhang, Hong Wang, et al.
Pageof 8