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Clinical Genetics|October 30, 2013
Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsyD A Dyment, E Sell, M R Vanstone, et al.Clinical Genetics|October 16, 2013
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndromeJ Y Al-Aama, S Al-Ghamdi, A Y Bdier, et al.Clinical Genetics|March 1, 1986
Determination of cholinesterase and acetylcholinesterase in amniotic fluid. Uses in prenatal diagnosis and quality controlB R Elejalde, G Peck, M M de ElejaldeClinical Genetics|April 1, 1986
The spectrum of clinical features in CHARGE syndromeS L Davenport, M A Hefner, J A MitchellClinical Genetics|November 21, 2013
Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous malformationsF Riant, S Odent, M Cecillon, et al.Clinical Genetics|November 22, 2013
Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test resultsA Semaka, M R HaydenClinical Genetics|August 27, 2014
The first mutation in CNGA2 in two brothers with anosmiaH G Karstensen, Y Mang, T Fark, et al.Clinical Genetics|October 14, 2014
Genetics of sudden cardiac death in the youngJ B Saenen, E M Van Craenenbroeck, D Proost, et al.Clinical Genetics|October 14, 2014
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 familiesM J Nabais Sá, H Storey, F Flinter, et al.Clinical Genetics|December 12, 2024
Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot StudyLuise Kessler, Jeremias Krause, Florian Kraft, et al.Pageof 718