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D F Smeets

Showing results (41-50 of 51) with videos related to

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Journal of Medical Genetics|February 5, 2008
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysisN de Leeuw, R Pfundt, D A Koolen, 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.
American Journal of Medical Genetics|May 1, 1994
Mosaic tetrasomy 8p in two patients: clinical data and review of the literatureC T Schrander-Stumpel, L C Govaerts, J J Engelen, et al.
American Journal of Medical Genetics|July 9, 1999
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysisB C Hamel, A P Smits, B van den Helm, et al.
Journal of Medical Genetics|February 1, 1993
The fragile X syndrome: no evidence for any recent mutationsA P Smits, J C Dreesen, J G Post, et al.
American Journal of Human Genetics|June 19, 1998
An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocationD Bodmer, M J Eleveld, M J Ligtenberg, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experienceJ H Tuerlings, H F de France, A Hamers, et al.
American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.
American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.
Human Mutation|January 11, 2000
Genetic variation in ICF syndrome: evidence for genetic heterogeneityC Wijmenga, R S Hansen, G Gimelli, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Journal of Medical Genetics|February 5, 2008
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysisN de Leeuw, R Pfundt, D A Koolen, 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.
American Journal of Medical Genetics|May 1, 1994
Mosaic tetrasomy 8p in two patients: clinical data and review of the literatureC T Schrander-Stumpel, L C Govaerts, J J Engelen, et al.
American Journal of Medical Genetics|July 9, 1999
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysisB C Hamel, A P Smits, B van den Helm, et al.
Journal of Medical Genetics|February 1, 1993
The fragile X syndrome: no evidence for any recent mutationsA P Smits, J C Dreesen, J G Post, et al.
American Journal of Human Genetics|June 19, 1998
An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocationD Bodmer, M J Eleveld, M J Ligtenberg, et al.
European Journal of Human Genetics : EJHG|October 22, 1998
Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experienceJ H Tuerlings, H F de France, A Hamers, et al.
American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.
American Journal of Human Genetics|March 21, 2000
Familial syndromic esophageal atresia maps to 2p23-p24J Celli, E van Beusekom, R C Hennekam, et al.
Human Mutation|January 11, 2000
Genetic variation in ICF syndrome: evidence for genetic heterogeneityC Wijmenga, R S Hansen, G Gimelli, et al.
Pageof 6