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Journal of Medical Genetics|December 24, 2005
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17pS Türkmen, O Demirhan, K Hoffmann, et al.Folia Biologica|May 25, 2010
Impairment of Sox9 expression in limb buds of rats homozygous for hypodactyly mutationF Liska, P Snajdr, S Stricker, et al.Hepatology (Baltimore, Md.)|March 30, 1999
Mutations in the basic core promotor and the precore region of hepatitis B virus and their selection in children with fulminant and chronic hepatitis BM Friedt, P Gerner, E Lausch, et al.Journal of Medical Genetics|May 1, 1995
Phenotypic variability in patients with generalised resistance to thyroid hormoneJ Pohlenz, S Wirth, A Winterpacht, et al.American Journal of Medical Genetics. Part A|October 14, 2005
Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 geneK Szczaluba, K Hilbert, E Obersztyn, et al.Human Mutation|January 1, 1996
New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormoneJ Pohlenz, W Schönberger, H Wemme, et al.American Journal of Medical Genetics. Part A|March 19, 2008
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from OmanAnna Rajab, U Kornak, B S Budde, et al.Journal of Medical Genetics|June 1, 1996
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneityR S Ramesar, J Greenberg, R Martin, et al.Prenatal Diagnosis|October 1, 1996
Microdissection and DOP-PCR-based reverse chromosome painting as a fast and reliable strategy in the analysis of various structural chromosome abnormalitiesJ Müller-Navia, A Nebel, D Oehler, et al.American Journal of Medical Genetics|May 3, 1996
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasiaB Zabel, K Hilbert, H Stöss, et al.Pageof 18