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Pediatric Nephrology (Berlin, Germany)|May 11, 2000
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuriaH Langen, D von Kietzell, D Byrd, et al.Human Genetics|February 1, 1987
Regional localization and characterization of a DNA segment on the long arm of chromosome 21D N Cooper, S C Niemann, J R Gosden, et al.International Journal of Cancer|September 29, 2000
C-MYC expression in medulloblastoma and its prognostic valueJ Herms, I Neidt, B Lüscher, et al.Human Genetics|May 1, 1997
Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survivalM Macek, M Macek, A Krebsová, et al.Annals of Neurology|October 18, 2001
Autosomal dominant glut-1 deficiency syndrome and familial epilepsyK Brockmann, D Wang, C G Korenke, et al.Clinical Genetics|May 9, 2008
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23M Stuhrmann, H C Hennies, I A Bukhari, et al.Journal of the Neurological Sciences|December 14, 2002
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscleC G Bönnemann, T G Thompson, P F M van der Ven, et al.The Journal of Clinical Endocrinology and Metabolism|October 13, 1998
Mutational analysis of PHEX gene in X-linked hypophosphatemiaP H Dixon, P T Christie, C Wooding, et al.Human Genetics|September 1, 1997
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferensT Dörk, B Dworniczak, C Aulehla-Scholz, et al.QJM : Monthly Journal of the Association of Physicians|February 4, 2012
A simple clinical model to estimate the probability of Marfan syndromeS Sheikhzadeh, M L Kusch, M Rybczynski, et al.Pageof 33