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Neuromuscular Disorders : NMD|February 3, 1998
Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western FinlandP Meretoja, K Silander, H Kalimo, et al.
Developmental Neuroscience|January 1, 1991
Sialic acid storage disorders: observations on clinical and biochemical variationG M Mancini, F W Verheijen, C E Beerens, et al.
Human Genetics|October 1, 1993
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathyK Huoponen, T Lamminen, V Juvonen, et al.
Human Mutation|January 1, 1997
Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathyV Juvonen, E Nikoskelainen, T Lamminen, et al.
Clinical Genetics|March 1, 1985
The incidence of Down syndrome in northern Finland with special reference to maternal ageJ Leisti, L Vahtola, S L Linna, et al.
European Journal of Endocrinology|September 2, 1998
Comparative genomic hybridization studies in tumours from a patient with multiple endocrine neoplasia type 1S Kytölä, M J Mäkinen, M Kähkönen, et al.
Journal of Medical Genetics|January 1, 1995
A patient with Wolf-Hirschhorn syndrome originating from translocation t(4;8) (p16.3;q24.3)patW el-Rifai, J Leisti, M Kähkönen, et al.
Human Genetics|September 1, 1987
Prevalence of the fragile X syndrome in four birth cohorts of children of school ageM Kähkönen, T Alitalo, E Airaksinen, et al.
American Journal of Diseases of Children (1960)|October 1, 1978
Prenatal diagnosis of congenital nephrosis in 23 high-risk familiesP Aula, J Rapola, O Karjalainen, et al.
Clinical Genetics|October 1, 1985
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosisA de la Chapelle, E M Sankila, M Lindlöf, et al.
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