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Journal of Medical Genetics
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November 1, 2011
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
D 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 microdeletions
Trent Burgess, Natasha J Brown, Zornitza Stark, et al.
Neurology
|
March 27, 2015
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women
Kim 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 spots
Yoshimi 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 analysis
David 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 kindreds
Jo 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 20q13.33
Ryan 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 abnormalities
Tiong Yang Tan, Amanda Collins, Paul A James, et al.
Neurology
|
December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C Cardoso, A Boys, E Parrini, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
January 22, 2013
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
D Ganesamoorthy, D L Bruno, G McGillivray, et al.
Page
of 42
Search research articles
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Showing results (391-400 of 414) with videos related to
Sort By:
Page
of 42
Journal of Medical Genetics
|
November 1, 2011
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
D 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 microdeletions
Trent Burgess, Natasha J Brown, Zornitza Stark, et al.
Neurology
|
March 27, 2015
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women
Kim 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 spots
Yoshimi 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 analysis
David 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 kindreds
Jo 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 20q13.33
Ryan 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 abnormalities
Tiong Yang Tan, Amanda Collins, Paul A James, et al.
Neurology
|
December 17, 2008
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C Cardoso, A Boys, E Parrini, et al.
BJOG : an International Journal of Obstetrics and Gynaecology
|
January 22, 2013
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?
D Ganesamoorthy, D L Bruno, G McGillivray, et al.
Page
of 42