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B C Hamel

Showing results (91-100 of 129) with videos related to

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Human Genetics|November 1, 1996
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhoodH Kremer, B C Hamel, B van den Helm, et al.
British Journal of Cancer|December 10, 1999
Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2T J Hulsebos, N T Oskam, E H Bijleveld, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 25, 1998
Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteinsP H Joosten, F A Hol, S E van Beersum, et al.
The New England Journal of Medicine|March 19, 1992
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15D F Smeets, B C Hamel, M R Nelen, et al.
American Journal of Medical Genetics|July 12, 1996
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28B C Hamel, H Kremer, E Wesby-van Swaay, et al.
Journal of Medical Genetics|May 19, 2001
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndromeE M Bongers, H Van Bokhoven, M N Van Thienen, et al.
Journal of Medical Genetics|March 1, 1995
Absence of linkage between familial neural tube defects and PAX3 geneS Chatkupt, F A Hol, Y Y Shugart, et al.
Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
Clinical Genetics|June 4, 1998
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defectsF A Hol, N M van der Put, M P Geurds, et al.
Journal of Medical Genetics|August 1, 1996
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifidaF A Hol, M P Geurds, S Chatkupt, et al.
Pageof 13

Showing results (91-100 of 129) with videos related to

Sort By:
Pageof 13
Human Genetics|November 1, 1996
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhoodH Kremer, B C Hamel, B van den Helm, et al.
British Journal of Cancer|December 10, 1999
Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2T J Hulsebos, N T Oskam, E H Bijleveld, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 25, 1998
Altered regulation of platelet-derived growth factor receptor-alpha gene-transcription in vitro by spina bifida-associated mutant Pax1 proteinsP H Joosten, F A Hol, S E van Beersum, et al.
The New England Journal of Medicine|March 19, 1992
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15D F Smeets, B C Hamel, M R Nelen, et al.
American Journal of Medical Genetics|July 12, 1996
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28B C Hamel, H Kremer, E Wesby-van Swaay, et al.
Journal of Medical Genetics|May 19, 2001
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndromeE M Bongers, H Van Bokhoven, M N Van Thienen, et al.
Journal of Medical Genetics|March 1, 1995
Absence of linkage between familial neural tube defects and PAX3 geneS Chatkupt, F A Hol, Y Y Shugart, et al.
Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
Clinical Genetics|June 4, 1998
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defectsF A Hol, N M van der Put, M P Geurds, et al.
Journal of Medical Genetics|August 1, 1996
PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifidaF A Hol, M P Geurds, S Chatkupt, et al.
Pageof 13