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K Ounap

Showing results (1-10 of 19) with videos related to

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European Journal of Human Genetics : EJHG|January 1, 1996
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomesH Lilleväli, K Ounap, A Metspalu
Clinical Dysmorphology|April 18, 1998
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?K Ounap, I Justus, M Lipping-Sitska
Human Mutation|February 19, 2000
Mutation 985A>G in the MCAD gene shows low incidence in Estonian populationH Lilleväli, K Margus, K Ounap, et al.
Journal of Medical Screening|May 12, 1998
Development of the phenylketonuria screening programme in EstoniaK Ounap, H Lilleväli, A Metspalu, et al.
Genetic Counseling (Geneva, Switzerland)|February 1, 2003
Sudden death of a girl with Prader-Willi syndromeE Oiglane, K Ounap, O Bartsch, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
The incidence and characterization of phenylketonuric patients in EstoniaK Ounap, H Lilleväli, T Klaassen, et al.
American Journal of Medical Genetics|January 8, 1999
Familial Williams-Beuren syndromeK Ounap, P Laidre, O Bartsch, et al.
American Journal of Medical Genetics|August 22, 2000
Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qterI Talvik, K Ounap, O Bartsch, et al.
Molecular Syndromology|December 23, 2011
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 GeneK Muru, I Kalev, R Teek, et al.
American Journal of Medical Genetics. Part A|October 14, 2004
Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal developmentK Ounap, O Uibo, R Zordania, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
European Journal of Human Genetics : EJHG|January 1, 1996
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomesH Lilleväli, K Ounap, A Metspalu
Clinical Dysmorphology|April 18, 1998
Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?K Ounap, I Justus, M Lipping-Sitska
Human Mutation|February 19, 2000
Mutation 985A>G in the MCAD gene shows low incidence in Estonian populationH Lilleväli, K Margus, K Ounap, et al.
Journal of Medical Screening|May 12, 1998
Development of the phenylketonuria screening programme in EstoniaK Ounap, H Lilleväli, A Metspalu, et al.
Genetic Counseling (Geneva, Switzerland)|February 1, 2003
Sudden death of a girl with Prader-Willi syndromeE Oiglane, K Ounap, O Bartsch, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
The incidence and characterization of phenylketonuric patients in EstoniaK Ounap, H Lilleväli, T Klaassen, et al.
American Journal of Medical Genetics|January 8, 1999
Familial Williams-Beuren syndromeK Ounap, P Laidre, O Bartsch, et al.
American Journal of Medical Genetics|August 22, 2000
Boy with celiac disease, malformations, and ring chromosome 13 with deletion 13q32-->qterI Talvik, K Ounap, O Bartsch, et al.
Molecular Syndromology|December 23, 2011
A Boy with Holt-Oram Syndrome Caused by Novel Mutation c.1304delT in the TBX5 GeneK Muru, I Kalev, R Teek, et al.
American Journal of Medical Genetics. Part A|October 14, 2004
Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal pubertal developmentK Ounap, O Uibo, R Zordania, et al.
Pageof 2