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Molecular Genetics & Genomic Medicine|May 23, 2019
A comparison of genomic laboratory reports and observations that may enhance their clinical utility for providers and patientsKyle Walter Davis, Lori Hamby Erby, Katie Fiallos, et al.
Molecular Genetics & Genomic Medicine|May 25, 2019
Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitroStefanie Spiegler, Matthias Rath, Christiane D Much, et al.
Molecular Genetics & Genomic Medicine|May 25, 2019
The influence of initial symptoms on phenotypes in spinocerebellar ataxia type 3Hao-Ling Xu, Qiu-Ni Su, Xian-Jin Shang, et al.
Molecular Genetics & Genomic Medicine|May 26, 2019
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variantsNissan Vida Baratang, Daniel Alexander Jimenez Cruz, Norbert Fonya Ajeawung, et al.
Molecular Genetics & Genomic Medicine|May 29, 2019
Genetic analysis of the relation between IL2RA/IL2RB and rheumatoid arthritis riskYonghui Yang, Shan Yuan, Meihua Che, et al.
Molecular Genetics & Genomic Medicine|April 13, 2022
A novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVRLi Peng, Erkuan Dai, Haodong Xiao, et al.
Molecular Genetics & Genomic Medicine|July 25, 2022
Mutation spectrum in a cohort with familial exudative vitreoretinopathyNing Qu, Wei Li, Dong-Ming Han, et al.
Molecular Genetics & Genomic Medicine|March 10, 2021
First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in ScandinaviaInger Norlyk Sheyanth, Ihab Bishara Lolas, Henrik Okkels, et al.
Molecular Genetics & Genomic Medicine|July 31, 2019
Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese populationDemin Ji, Wenhua Xing, Feng Li, et al.
Molecular Genetics & Genomic Medicine|August 1, 2019
Molecular investigation in Chinese patients with primary carnitine deficiencyYanghui Zhang, Haoxian Li, Jing Liu, et al.
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