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Showing results (481-490 of 505) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonismDanuta Z Loesch, David E Godler, Andrew Evans, et al.
Journal of Medical Genetics|November 1, 2011
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotypingD L Bruno, S M White, D Ganesamoorthy, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.
Neurology|March 27, 2015
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation womenKim M Cornish, Claudine M Kraan, Quang Minh Bui, et al.
Clinical Chemistry|April 30, 2014
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spotsYoshimi Inaba, Charles E Schwartz, Quang M Bui, et al.
Expert Reviews in Molecular Medicine|July 2, 2015
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysisDavid E Godler, Yoshimi Inaba, Charles E Schwartz, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindredsJo Perry, Sue M White, Sara Nouri, et al.
Plos One|September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Pageof 51

Showing results (481-490 of 505) with videos related to

Sort By:
Pageof 51
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 29, 2011
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonismDanuta Z Loesch, David E Godler, Andrew Evans, et al.
Journal of Medical Genetics|November 1, 2011
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotypingD L Bruno, S M White, D Ganesamoorthy, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.
Neurology|March 27, 2015
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation womenKim M Cornish, Claudine M Kraan, Quang Minh Bui, et al.
Clinical Chemistry|April 30, 2014
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spotsYoshimi Inaba, Charles E Schwartz, Quang M Bui, et al.
Expert Reviews in Molecular Medicine|July 2, 2015
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysisDavid E Godler, Yoshimi Inaba, Charles E Schwartz, et al.
American Journal of Medical Genetics. Part A|May 13, 2005
Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindredsJo Perry, Sue M White, Sara Nouri, et al.
Plos One|September 1, 2010
A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor, Damien L Bruno, Trent Burgess, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Neurology|December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionC Cardoso, A Boys, E Parrini, et al.
Pageof 51