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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.American Journal of Medical Genetics. Part A|April 14, 2007
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N Vlangos, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSanthosh Girirajan, Christopher N Vlangos, Barbara B Szomju, et al.American Journal of Medical Genetics. Part A|June 18, 2009
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureN Simon Thomas, John F Harvey, David J Bunyan, et al.Human Genetics|November 14, 2009
Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasiaFiona Connell, Kamini Kalidas, Pia Ostergaard, et al.Genome Medicine|September 9, 2024
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approachCarolina Jaramillo Oquendo, Htoo A Wai, Wil I Rich, et al.Journal of Reproduction & Infertility|December 1, 2022
Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary InfertilityDavid J Bunyan, Mili Saran, James I Hobbs, et al.Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.American Journal of Medical Genetics. Part A|December 25, 2015
Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short statureDavid J Bunyan, Maria Baffico, Lucia Capone, et al.American Journal of Medical Genetics. Part A|August 21, 2007
Zellweger syndrome resulting from maternal isodisomy of chromosome 1Claire L S Turner, David J Bunyan, N Simon Thomas, et al.Pageof 4