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H G Brunner

Showing results (61-70 of 179) with videos related to

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American Journal of Medical Genetics|June 1, 1993
Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spotsH G Brunner, T Hulsebos, P M Steijlen, et al.
Neuropediatrics|April 1, 1996
Association of congenital muscular dystrophy with hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitaliaQ H Leyten, W O Renier, F J Gabreëls, et al.
Journal of Medical Genetics|November 1, 1992
Presymptomatic diagnosis of myotonic dystrophyH G Brunner, W Nillesen, B A van Oost, et al.
Lancet (London, England)|July 25, 1992
Prenatal diagnosis of myotonic dystrophy by direct mutation analysisH J Smeets, W M Nillesen, F Los, et al.
Human Molecular Genetics|September 1, 1994
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 geneH G Brunner, S E van Beersum, M L Warman, et al.
American Journal of Medical Genetics|June 13, 1997
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 geneM A van Steensel, P Buma, M C de Waal Malefijt, et al.
Clinical Dysmorphology|January 1, 1996
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new associationJ J Van Den Ende, C J Van Der Burgt, M C Jansweijer, et al.
Molecular Endocrinology (Baltimore, Md.)|June 17, 1998
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotypeJ W Martens, M Verhoef-Post, N Abelin, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 1995
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious pubertyR Kraaij, M Post, H Kremer, et al.
Human Genetics|December 1, 1988
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGKH G Brunner, A van Bennekom, E M Lambermon, et al.
Pageof 18

Showing results (61-70 of 179) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics|June 1, 1993
Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spotsH G Brunner, T Hulsebos, P M Steijlen, et al.
Neuropediatrics|April 1, 1996
Association of congenital muscular dystrophy with hypoplasia of the lateral abdominal wall musculature and hypoplasia of the external genitaliaQ H Leyten, W O Renier, F J Gabreëls, et al.
Journal of Medical Genetics|November 1, 1992
Presymptomatic diagnosis of myotonic dystrophyH G Brunner, W Nillesen, B A van Oost, et al.
Lancet (London, England)|July 25, 1992
Prenatal diagnosis of myotonic dystrophy by direct mutation analysisH J Smeets, W M Nillesen, F Los, et al.
Human Molecular Genetics|September 1, 1994
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 geneH G Brunner, S E van Beersum, M L Warman, et al.
American Journal of Medical Genetics|June 13, 1997
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 geneM A van Steensel, P Buma, M C de Waal Malefijt, et al.
Clinical Dysmorphology|January 1, 1996
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new associationJ J Van Den Ende, C J Van Der Burgt, M C Jansweijer, et al.
Molecular Endocrinology (Baltimore, Md.)|June 17, 1998
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotypeJ W Martens, M Verhoef-Post, N Abelin, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 1995
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious pubertyR Kraaij, M Post, H Kremer, et al.
Human Genetics|December 1, 1988
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGKH G Brunner, A van Bennekom, E M Lambermon, et al.
Pageof 18