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Clinical Genetics|May 26, 2010
Functional analysis of splicing mutations in MYO7A and USH2A genesT Jaijo, E Aller, M J Aparisi, et al.Clinical Genetics|May 26, 2010
RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical managementS Mukherjee, D ZakalikClinical Genetics|June 10, 2010
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearanceM Al-Owain, N Kaya, H Al-Zaidan, et al.Clinical Genetics|June 10, 2010
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigreesS Basit, A Wali, A Aziz, et al.Clinical Genetics|June 22, 2010
Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and managementM A Kalina, B Kalina-Faska, J Paprocka, et al.Clinical Genetics|January 1, 1978
An unusual form of galactosemia: studies on erythrocytes and hair rootsC H de Bruyn, T L Oei, L A Monnens, et al.Clinical Genetics|February 1, 1978
Double pre-beta lipoprotein in ischaemic heart diseaseA D Postle, J M Darmady, D C SiggersClinical Genetics|July 13, 2010
Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastomaC J Dommering, M R van den Heuvel, A C Moll, et al.Clinical Genetics|July 13, 2010
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disordersA M Innes, K M Boycott, E G Puffenberger, et al.Pageof 718