Showing results (521-530 of 5,631) with videos related to

Sort By:
Pageof 564
European Journal of Human Genetics : EJHG|February 21, 2008
Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patientsGaetan Lesca, Emmanuelle Genin, Claire Blachier, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing lossAlejandra Pera, Manuela Villamar, Antonio Viñuela, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophiesVeronique B D Kitiratschky, Tanja Grau, Antje Bernd, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
How much is too much? Phenotypic consequences of Rai1 overexpression in miceSanthosh Girirajan, Nisha Patel, Rebecca E Slager, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?Kate Craig, Yoshihisa Takiyama, Bing-Wen Soong, et al.
European Journal of Human Genetics : EJHG|February 21, 2008
The success of the genome-wide association approach: a brief story of a long struggleKu Chee Seng, Chia Kee Seng
European Journal of Human Genetics : EJHG|February 21, 2008
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and managementForbes D Porter
European Journal of Human Genetics : EJHG|February 14, 2008
Potential association of INSIG2 rs7566605 polymorphism with body weight in a Chinese subpopulationLing Yang, Ying Wu, Huaixin Li, et al.
European Journal of Human Genetics : EJHG|February 14, 2008
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint areaChiara Floris, Stefania Rassu, Loredana Boccone, et al.
European Journal of Human Genetics : EJHG|January 24, 2008
Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletionsKatharina Steinmann, Lan Kluwe, David N Cooper, et al.
Pageof 564