Showing results (891-900 of 6,486) with videos related to
Sort By:
Pageof 649
Journal of Medical Genetics|December 1, 1998
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathiesE S Moreira, M Vainzof, S K Marie, et al.Journal of Medical Genetics|December 1, 1998
Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosisS Pinson, J Yaouanq, A M Jouanolle, et al.Journal of Medical Genetics|March 10, 2006
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3W-M Chan, E I Traboulsi, B Arthur, et al.Journal of Medical Genetics|February 10, 2006
Association of TPH1 with suicidal behaviour and psychiatric disorders in the Chinese populationX Liu, H Li, W Qin, et al.Journal of Medical Genetics|January 31, 2006
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populationsM Sharma, J C Mueller, A Zimprich, et al.Journal of Medical Genetics|January 7, 2006
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyC Thauvin-Robinet, M Cossée, V Cormier-Daire, et al.Journal of Medical Genetics|January 10, 2006
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegiaA Bouhouche, A Benomar, N Bouslam, et al.Journal of Medical Genetics|July 1, 1992
A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisationJ Goodship, A Curtis, I Cross, et al.Journal of Medical Genetics|July 1, 1992
Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal regionT Ogata, P Goodfellow, C Petit, et al.Journal of Medical Genetics|July 1, 1992
Meiotic and sperm chromosome analysis in a male carrier of an inverted insertion (3;10)(q13.2;p14p13)A S Goldman, R H Martin, R Johannisson, et al.Pageof 649