Showing results (551-560 of 5,631) with videos related to

Sort By:
Pageof 564
European Journal of Human Genetics : EJHG|September 4, 2019
Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patientsRoser Urreizti, Klaus Mayer, Gilad D Evrony, et al.
European Journal of Human Genetics : EJHG|May 21, 2015
Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseasesMiguel A Varela, Helen J Curtis, Andrew G L Douglas, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility lociCiara Coleman, Emma M Quinn, Anthony W Ryan, et al.
European Journal of Human Genetics : EJHG|February 5, 1998
Could the 185delAG BRCA1 mutation be an ancient Jewish mutation?R B Bar-Sade, L Theodor, E Gak, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotypeR M Hofstra, J Osinga, C H Buys
European Journal of Human Genetics : EJHG|July 1, 1997
A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2A Faiella, S Brunelli, T Granata, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patientsR Parvari, K J Lei, L Szonyi, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Refined mapping of the Cohen syndrome gene by linkage disequilibriumJ Kolehmainen, R Norio, S Kivitie-Kallio, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Refined subchromosomal location of 21 expressed sequence tags from unknown genes at region 11p15C Schwienbacher, S Sabbioni, G Barbanti-Brodano, et al.
European Journal of Human Genetics : EJHG|July 1, 1997
Three novel point mutations in the keratinocyte transglutaminase (TGK) gene in lamellar ichthyosis: significance for mutant transcript level, TGK immunodetection and activityE Petit, M Huber, A Rochat, et al.
Pageof 564