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H J Smeets

Showing results (41-50 of 57) with videos related to

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Human Molecular Genetics|November 1, 1995
Normal phenotype in two brothers with a full FMR1 mutationH J Smeets, A P Smits, C E Verheij, et al.
Kidney International|July 1, 1992
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndromeH J Smeets, J J Melenhorst, H H Lemmink, et al.
Nucleic Acids Research|October 12, 2000
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatographyB J van Den Bosch, R F de Coo, H R Scholte, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 4, 2008
Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletionG Poelmans, J J M Engelen, J Van Lent-Albrechts, et al.
Journal of the American College of Cardiology|February 11, 1999
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1)A A Wilde, R J Jongbloed, P A Doevendans, et al.
Brain : a Journal of Neurology|October 1, 1991
Myotonic dystrophy. Predictive value of normal results on clinical examinationH G Brunner, H J Smeets, W Nillesen, et al.
Neurology|January 27, 1998
A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodesI F de Coo, E A Sistermans, I J de Wijs, et al.
Human Molecular Genetics|August 1, 1994
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndromeH H Lemmink, T Mochizuki, L P van den Heuvel, et al.
Journal of the American Society of Nephrology : JASN|July 1, 1997
Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney diseaseJ J Jansen, J A Maassen, F J van der Woude, et al.
Journal of Medical Genetics|December 1, 1992
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeE J Meijers-Heijboer, L A Sandkuijl, H G Brunner, et al.
Pageof 6

Showing results (41-50 of 57) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|November 1, 1995
Normal phenotype in two brothers with a full FMR1 mutationH J Smeets, A P Smits, C E Verheij, et al.
Kidney International|July 1, 1992
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndromeH J Smeets, J J Melenhorst, H H Lemmink, et al.
Nucleic Acids Research|October 12, 2000
Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatographyB J van Den Bosch, R F de Coo, H R Scholte, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|June 4, 2008
Identification of novel dyslexia candidate genes through the analysis of a chromosomal deletionG Poelmans, J J M Engelen, J Van Lent-Albrechts, et al.
Journal of the American College of Cardiology|February 11, 1999
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1)A A Wilde, R J Jongbloed, P A Doevendans, et al.
Brain : a Journal of Neurology|October 1, 1991
Myotonic dystrophy. Predictive value of normal results on clinical examinationH G Brunner, H J Smeets, W Nillesen, et al.
Neurology|January 27, 1998
A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodesI F de Coo, E A Sistermans, I J de Wijs, et al.
Human Molecular Genetics|August 1, 1994
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndromeH H Lemmink, T Mochizuki, L P van den Heuvel, et al.
Journal of the American Society of Nephrology : JASN|July 1, 1997
Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney diseaseJ J Jansen, J A Maassen, F J van der Woude, et al.
Journal of Medical Genetics|December 1, 1992
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndromeE J Meijers-Heijboer, L A Sandkuijl, H G Brunner, et al.
Pageof 6