H H Ropers - JoVE Visualize

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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.

Human Molecular Genetics|January 4, 2001

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applicationsR Sudbrak, G Wieczorek, U A Nuber, et al.

Neurogenetics|October 20, 2005

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1989

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremiaF P Cremers, D J van de Pol, B Wieringa, et al.

Human Molecular Genetics|July 1, 1996

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1R Roepman, G van Duijnhoven, T Rosenberg, et al.

Journal of Medical Genetics|June 19, 2002

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocationI Borg, M Squire, C Menzel, et al.

Genomics|August 1, 1992

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 regionA M van den Ouweland, M T Knoop, V V Knoers, et al.

Genomics|January 15, 1994

Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type IIH von Bokhoven, C von Genderen, C M Molloy, 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.

Human Molecular Genetics|April 4, 2001

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brainH G Nothwang, H G Kim, J Aoki, et al.

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Showing results (171-180 of 204) with videos related to

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Pageof 21

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.

Human Molecular Genetics|January 4, 2001

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applicationsR Sudbrak, G Wieczorek, U A Nuber, et al.

Neurogenetics|October 20, 2005

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosisK Poirier, D Lacombe, B Gilbert-Dussardier, et al.

Proceedings of the National Academy of Sciences of the United States of America|October 1, 1989

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremiaF P Cremers, D J van de Pol, B Wieringa, et al.

Human Molecular Genetics|July 1, 1996

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1R Roepman, G van Duijnhoven, T Rosenberg, et al.

Journal of Medical Genetics|June 19, 2002

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocationI Borg, M Squire, C Menzel, et al.

Genomics|August 1, 1992

Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 regionA M van den Ouweland, M T Knoop, V V Knoers, et al.

Genomics|January 15, 1994

Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type IIH von Bokhoven, C von Genderen, C M Molloy, 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.

Human Molecular Genetics|April 4, 2001

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brainH G Nothwang, H G Kim, J Aoki, et al.

Pageof 21