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Journal of Medical Genetics|December 24, 1998
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctataL J Sheffield, A H Osborn, W M Hutchison, et al.Journal of Medical Genetics|December 24, 1998
Segregation distortion in myotonic dystrophyA C Magee, A E HughesJournal of Medical Genetics|December 24, 1998
De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasiaC P Chen, S R Chern, C C Lee, et al.Journal of Medical Genetics|August 1, 1976
Genetic analyses of pyloric stenosis suggesting a specific maternal effectK K Kidd, M A SpenceJournal of Medical Genetics|December 14, 2007
Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese populationY Yamada, K Kato, M Oguri, et al.Journal of Medical Genetics|May 31, 2008
Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?H Kehrer-Sawatzki, D N CooperJournal of Medical Genetics|May 31, 2008
Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS familiesG Bougeard, R Sesboüé, S Baert-Desurmont, et al.Journal of Medical Genetics|January 20, 2025
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsyYue Song, Yang Xia, Ziyue Peng, et al.Journal of Medical Genetics|January 13, 2025
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosaMinako Hijikata, Kozo Morimoto, Masashi Ito, et al.Journal of Medical Genetics|December 31, 2024
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestriesEric Lee, Kaylee OrtonPageof 649