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American Journal of Medical Genetics|January 24, 1998
Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two familiesD Chitayat, A Grix, J W Balfe, et al.Clinical Genetics|April 11, 2014
De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotypeM Roifman, C L M Marcelis, T Paton, et al.Teratology|November 25, 2000
Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studiesL Park-Wyllie, P Mazzotta, A Pastuszak, et al.Prenatal Diagnosis|March 8, 2006
Isodicentric Yp: prenatal diagnosis and outcome in 12 casesH Bruyère, M D Speevak, E J T Winsor, et al.Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases|September 26, 2012
Distribution of fluconazole-resistant Candida bloodstream isolates among hospitals and inpatient services in IsraelR Ben-Ami, G Rahav, H Elinav, et al.Journal of Medical Genetics|October 15, 2016
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF geneM Balasubramanian, H Lord, S Levesque, et al.Prenatal Diagnosis|November 13, 2013
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatallyM A Dempsey, A E Knight Johnson, B S Swope, et al.American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.Pageof 27