Showing results (101-110 of 3,503) with videos related to
Sort By:
Pageof 351
Journal of Human Genetics|June 1, 2006
The genetics of intracranial aneurysmsBoris Krischek, Ituro InoueJournal of Human Genetics|June 3, 2020
Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidyDiana Massalska, Katarzyna Ozdarska, Julia Bijok, et al.Journal of Human Genetics|June 3, 2020
Genetic and epigenetic profiling of BRCA1/2 in ovarian tumors reveals additive diagnostic yield and evidence of a genomic BRCA1/2 DNA methylation signatureErfan Aref-Eshghi, Jacob D McGee, Victor P Pedro, et al.Journal of Human Genetics|June 4, 2020
Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a timeJ Perez Maturo, L Zavala, P Vega, et al.Journal of Human Genetics|May 16, 2020
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland ChinaYongxin Wen, Jiaping Wang, Qingping Zhang, et al.Journal of Human Genetics|September 8, 2021
Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomesSimon G Williams, Dominic J F Byrne, Bernard D KeavneyJournal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.Journal of Human Genetics|May 29, 2015
Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patientsJaya Sanyal, Arpita Jana, Epsita Ghosh, et al.Journal of Human Genetics|May 29, 2015
Aggregation of rare/low-frequency variants of the mitochondria respiratory chain-related proteins in rheumatoid arthritis patientsShigeki Mitsunaga, Kazuyoshi Hosomichi, Yuko Okudaira, et al.Pageof 351