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Journal of Endocrinological Investigation|May 29, 2009
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predispositionO Vierimaa, A Villablanca, A Alimov, et al.European Journal of Endocrinology|September 4, 2007
Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlationO Vierimaa, T M L Ebeling, S Kytölä, et al.Journal of Medical Genetics|August 30, 2008
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patientsC Zweier, H Sticht, E K Bijlsma, et al.Annals of Neurology|July 14, 2000
Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopmentM M Guerreiro, E Andermann, R Guerrini, et al.Journal of Medical Genetics|November 14, 1997
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyA K Ryan, J A Goodship, D I Wilson, et al.Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.Pageof 9