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G Brunner

Showing results (391-400 of 727) with videos related to

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The New England Journal of Medicine|February 18, 1993
Brief report: reverse mutation in myotonic dystrophyH G Brunner, G Jansen, W Nillesen, et al.
The Journal of Clinical Endocrinology and Metabolism|June 7, 2002
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiencyJ W M Martens, S Lumbroso, M Verhoef-Post, et al.
Journal of Medical Genetics|February 12, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, et al.
American Journal of Human Genetics|November 1, 1993
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)H G Brunner, H T Brüggenwirth, W Nillesen, et al.
International Journal of Cancer|October 25, 2007
Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?C M Kets, J H J M van Krieken, P E J van Erp, et al.
American Journal of Human Genetics|June 1, 1993
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolismH G Brunner, M R Nelen, P van Zandvoort, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Low frequency of MECP2 mutations in mentally retarded malesHelger G Yntema, Tjitske Kleefstra, Astrid R Oudakker, et al.
American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
Journal of Human Genetics|July 26, 2006
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen, Jos Herbergs, Joris A Veltman, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
Pageof 73

Showing results (391-400 of 727) with videos related to

Sort By:
Pageof 73
The New England Journal of Medicine|February 18, 1993
Brief report: reverse mutation in myotonic dystrophyH G Brunner, G Jansen, W Nillesen, et al.
The Journal of Clinical Endocrinology and Metabolism|June 7, 2002
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiencyJ W M Martens, S Lumbroso, M Verhoef-Post, et al.
Journal of Medical Genetics|February 12, 2015
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, et al.
American Journal of Human Genetics|November 1, 1993
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM)H G Brunner, H T Brüggenwirth, W Nillesen, et al.
International Journal of Cancer|October 25, 2007
Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?C M Kets, J H J M van Krieken, P E J van Erp, et al.
American Journal of Human Genetics|June 1, 1993
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolismH G Brunner, M R Nelen, P van Zandvoort, et al.
European Journal of Human Genetics : EJHG|July 12, 2002
Low frequency of MECP2 mutations in mentally retarded malesHelger G Yntema, Tjitske Kleefstra, Astrid R Oudakker, et al.
American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
Journal of Human Genetics|July 26, 2006
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1David A Koolen, Jos Herbergs, Joris A Veltman, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
Pageof 73