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Journal of Medical Genetics|October 24, 2006
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker, Katarina Lehmann, Anna Leana Schulz, et al.Journal of Medical Genetics|July 4, 2006
AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3Q J Wang, Q Z Li, S Q Rao, et al.Journal of Medical Genetics|July 4, 2006
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3A S Brooks, P A Leegwater, G M Burzynski, et al.Journal of Medical Genetics|June 28, 2006
AMP-kinase alpha2 subunit gene PRKAA2 variants are associated with total cholesterol, low-density lipoprotein-cholesterol and high-density lipoprotein-cholesterol in normal womenN J Spencer-Jones, D Ge, H Snieder, et al.Journal of Medical Genetics|January 23, 2023
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutationsChe-Yuan Kuo, Ming-Yi Chung, Shih-Jen ChenJournal of Medical Genetics|September 1, 1987
Tuberous sclerosis: a large family with no history of seizures or mental retardationA E Fryer, J P Osborne, R Tan, et al.Journal of Medical Genetics|November 29, 2022
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disordersEstela Carrasco, Adrià López-Fernández, Marta Codina-Sola, et al.Journal of Medical Genetics|August 1, 1987
Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patientsH KääriäinenJournal of Medical Genetics|December 23, 2022
Development of a comprehensive approach to adult hereditary cancer testing in OntarioKathleen Anne Bell, Raymond Kim, Melyssa Aronson, et al.Journal of Medical Genetics|December 20, 2022
Population-based analysis of POT1 variants in a cutaneous melanoma case-control cohortIrving Simonin-Wilmer, Raul Ossio, Emmett M Leddin, et al.Pageof 649