R J Sinke - JoVE Visualize

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Brain : a Journal of Neurology|August 13, 2004

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3D S Verbeek, B P van de Warrenburg, P Wesseling, et al.

Cytogenetics and Cell Genetics|January 1, 1994

Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13P M Deen, D O Weghuis, R J Sinke, et al.

Annals of Neurology|June 21, 2001

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotypeN van Alfen, R J Sinke, M J Zwarts, et al.

European Journal of Pediatrics|March 30, 2001

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic studyJ C Giltay, M G Ausems, I van Seumeren, et al.

Human Genetics|January 1, 1997

Exclusion of the phosphatidylinositol-specific phospholipase C beta 3 (PLC beta 3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) geneM J de Wit, R M Landsvater, R J Sinke, et al.

Clinical Genetics|July 4, 2006

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 casesD Stemkens, T Roza, L Verrij, et al.

Biochemical and Molecular Medicine|February 1, 1997

Exclusion of the nuclear factor-kappa B3 (REL A) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) geneR M Landsvater, M J de Wit, L F Peterson, et al.

Journal of Medical Genetics|August 27, 1998

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiencyD R Sjarif, R J Sinke, M Duran, et al.

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1993

Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heartD Schultz, G Mikala, A Yatani, et al.

Genomics|August 10, 1995

Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1T J Hulsebos, K M Cerosaletti, R E Fournier, et al.

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Showing results (11-20 of 43) with videos related to

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Brain : a Journal of Neurology|August 13, 2004

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3D S Verbeek, B P van de Warrenburg, P Wesseling, et al.

Cytogenetics and Cell Genetics|January 1, 1994

Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13P M Deen, D O Weghuis, R J Sinke, et al.

Annals of Neurology|June 21, 2001

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotypeN van Alfen, R J Sinke, M J Zwarts, et al.

European Journal of Pediatrics|March 30, 2001

Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic studyJ C Giltay, M G Ausems, I van Seumeren, et al.

Human Genetics|January 1, 1997

Exclusion of the phosphatidylinositol-specific phospholipase C beta 3 (PLC beta 3) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) geneM J de Wit, R M Landsvater, R J Sinke, et al.

Clinical Genetics|July 4, 2006

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 casesD Stemkens, T Roza, L Verrij, et al.

Biochemical and Molecular Medicine|February 1, 1997

Exclusion of the nuclear factor-kappa B3 (REL A) gene as candidate for the multiple endocrine neoplasia type 1 (MEN 1) geneR M Landsvater, M J de Wit, L F Peterson, et al.

Journal of Medical Genetics|August 27, 1998

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiencyD R Sjarif, R J Sinke, M Duran, et al.

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1993

Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heartD Schultz, G Mikala, A Yatani, et al.

Genomics|August 10, 1995

Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1T J Hulsebos, K M Cerosaletti, R E Fournier, et al.

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