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Human Molecular Genetics
|
December 19, 2003
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, et al.
Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence
|
April 23, 2005
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome
Carrie E Bearden, Abbas F Jawad, David R Lynch, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
Hagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
The American Journal of Psychiatry
|
September 1, 2004
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome
Carrie E Bearden, Abbas F Jawad, David R Lynch, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 28, 2008
Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development
Jason Newbern, Jian Zhong, Rasika S Wickramasinghe, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Mark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients
Robert L Conway, Barry D Pressman, William B Dobyns, et al.
Brain : a Journal of Neurology
|
March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
American Journal of Medical Genetics. Part A
|
February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Leonie A Menke, , Thatjana Gardeitchik, et al.
Journal of Medical Genetics
|
October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
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Search research articles
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Showing results (21-30 of 30) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 30 results.
Human Molecular Genetics
|
December 19, 2003
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, et al.
Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence
|
April 23, 2005
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome
Carrie E Bearden, Abbas F Jawad, David R Lynch, et al.
American Journal of Medical Genetics. Part A
|
August 8, 2006
Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene
Hagit Baris, Bassem A Bejjani, Wen-Hann Tan, et al.
The American Journal of Psychiatry
|
September 1, 2004
Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome
Carrie E Bearden, Abbas F Jawad, David R Lynch, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
October 28, 2008
Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development
Jason Newbern, Jian Zhong, Rasika S Wickramasinghe, et al.
American Journal of Medical Genetics. Part A
|
July 29, 2018
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients
Mark D Levin, Sulagna C Saitta, Karen W Gripp, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2007
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients
Robert L Conway, Barry D Pressman, William B Dobyns, et al.
Brain : a Journal of Neurology
|
March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care
Filomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
American Journal of Medical Genetics. Part A
|
February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome
Leonie A Menke, , Thatjana Gardeitchik, et al.
Journal of Medical Genetics
|
October 2, 2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients
Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, et al.
Page
of 3