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Physiological Genomics
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June 11, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss
Pu Dai, Andrew K Stewart, Fouad Chebib, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
European Journal of Medical Genetics
|
February 6, 2010
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Feng Li, Yiping Shen, Udo Köhler, et al.
The New England Journal of Medicine
|
January 11, 2008
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A Weiss, Yiping Shen, Joshua M Korn, et al.
Archives of General Psychiatry
|
October 10, 2012
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity
Carl Ernst, Christian R Marshall, Yiping Shen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Girish V Putcha, Bassem A Bejjani, Stacey Bleoo, et al.
Journal of Inherited Metabolic Disease
|
July 23, 2011
The adult galactosemic phenotype
Susan E Waisbren, Nancy L Potter, Catherine M Gordon, et al.
Journal of Translational Medicine
|
April 16, 2009
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment
Pu Dai, Fei Yu, Bing Han, et al.
The New England Journal of Medicine
|
August 21, 2014
Somatic mutations in cerebral cortical malformations
Saumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Cell
|
April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Page
of 8
Search research articles
Search
Showing results (61-70 of 77) with videos related to
Sort By:
Page
of 8
Physiological Genomics
|
June 11, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss
Pu Dai, Andrew K Stewart, Fouad Chebib, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
European Journal of Medical Genetics
|
February 6, 2010
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
Feng Li, Yiping Shen, Udo Köhler, et al.
The New England Journal of Medicine
|
January 11, 2008
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A Weiss, Yiping Shen, Joshua M Korn, et al.
Archives of General Psychiatry
|
October 10, 2012
Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity
Carl Ernst, Christian R Marshall, Yiping Shen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Girish V Putcha, Bassem A Bejjani, Stacey Bleoo, et al.
Journal of Inherited Metabolic Disease
|
July 23, 2011
The adult galactosemic phenotype
Susan E Waisbren, Nancy L Potter, Catherine M Gordon, et al.
Journal of Translational Medicine
|
April 16, 2009
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment
Pu Dai, Fei Yu, Bing Han, et al.
The New England Journal of Medicine
|
August 21, 2014
Somatic mutations in cerebral cortical malformations
Saumya S Jamuar, Anh-Thu N Lam, Martin Kircher, et al.
Cell
|
April 24, 2012
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, et al.
Page
of 8