Showing results (1341-1350 of 2,523) with videos related to

Sort By:
Pageof 253
Molecular Genetics & Genomic Medicine|February 26, 2022
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathwayXiaofang Shen, Shun Zhang, Xin Zhang, et al.
Molecular Genetics & Genomic Medicine|April 15, 2022
Quadruple genetic variants in a sporadic ALS patientRüstem Yilmaz, Kanchi Weishaupt, Ivan Valkadinov, et al.
Molecular Genetics & Genomic Medicine|April 15, 2022
Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese populationLeilei Gu, Yue Han, Donghua Zhang, et al.
Molecular Genetics & Genomic Medicine|December 11, 2023
First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non-consanguineous Chinese familyHuiling Xu, Jiajie Pu, Ningjie Yang, et al.
Molecular Genetics & Genomic Medicine|December 1, 2023
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-upLin Kun, Huang Jiexiang, Lin Hua, et al.
Molecular Genetics & Genomic Medicine|December 1, 2023
Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2BDanyang Li, Bingbo Zhou, Xinyuan Tian, et al.
Molecular Genetics & Genomic Medicine|November 28, 2023
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature reviewJinsong Jiang, Yu Feng, Qiaoyin Tang, et al.
Molecular Genetics & Genomic Medicine|November 6, 2023
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case reportJing Chen, Qinqin Xiang, Xiao Xiao, et al.
Molecular Genetics & Genomic Medicine|November 16, 2023
Haptoglobin gene polymorphism and iron profile in sickle cell disease patients with inflammation in Yaounde, CameroonRomaric De Manfouo Tuono, Josué Louokdom Simo, Prosper Cabral Biapa Nya, et al.
Molecular Genetics & Genomic Medicine|November 10, 2023
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS geneYu Tan, Huan Tian, Jingqun Mai, et al.
Pageof 253