M T Geraghty - JoVE Visualize

Showing results (31-40 of 41) with videos related to

Pageof 5

Sort By:

Genes, Chromosomes & Cancer|March 1, 1993

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpointB de Leeuw, W Berger, R J Sinke, et al.

American Journal of Obstetrics and Gynecology|April 16, 1999

Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case findingW B Hanley, L D Platt, R P Bachman, et al.

American Journal of Medical Genetics|June 22, 2000

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)C B Cargile, I McIntosh, M V Clough, et al.

American Journal of Medical Genetics|July 31, 2001

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndromeM Li, C Shuman, Y L Fei, et al.

Cancer Genetics and Cytogenetics|December 1, 1993

Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2R F Suijkerbuijk, A M Meloni, R J Sinke, et al.

American Journal of Medical Genetics|December 18, 1998

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated familiesB K Goodman, L G Shaffer, J Rutberg, et al.

Molecular Genetics and Metabolism|August 29, 2007

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type IIM E McCready, N L Carson, P Chakraborty, et al.

American Journal of Medical Genetics. Part A|February 27, 2010

Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literatureA Erez, J Li, M T Geraghty, et al.

Journal of Inherited Metabolic Disease|November 1, 2002

Phenylketonuria in adulthood: a collaborative studyR Koch, B Burton, G Hoganson, et al.

Human Molecular Genetics|July 13, 1999

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.

Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:

Pageof 5

Genes, Chromosomes & Cancer|March 1, 1993

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpointB de Leeuw, W Berger, R J Sinke, et al.

American Journal of Obstetrics and Gynecology|April 16, 1999

Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case findingW B Hanley, L D Platt, R P Bachman, et al.

American Journal of Medical Genetics|June 22, 2000

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12)C B Cargile, I McIntosh, M V Clough, et al.

American Journal of Medical Genetics|July 31, 2001

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndromeM Li, C Shuman, Y L Fei, et al.

Cancer Genetics and Cytogenetics|December 1, 1993

Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2R F Suijkerbuijk, A M Meloni, R J Sinke, et al.

American Journal of Medical Genetics|December 18, 1998

Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated familiesB K Goodman, L G Shaffer, J Rutberg, et al.

Molecular Genetics and Metabolism|August 29, 2007

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type IIM E McCready, N L Carson, P Chakraborty, et al.

American Journal of Medical Genetics. Part A|February 27, 2010

Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency--case report and review of the literatureA Erez, J Li, M T Geraghty, et al.

Journal of Inherited Metabolic Disease|November 1, 2002

Phenylketonuria in adulthood: a collaborative studyR Koch, B Burton, G Hoganson, et al.

Human Molecular Genetics|July 13, 1999

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndromeD J Marsh, J B Kum, K L Lunetta, et al.

Pageof 5