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NPJ Genomic Medicine
|
June 27, 2017
Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes
Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, et al.
NPJ Genomic Medicine
|
February 22, 2022
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Islam Oguz Tuncay, Nancy L Parmalee, Raida Khalil, et al.
NPJ Genomic Medicine
|
December 22, 2017
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
Breanne Dale, Bonnie MacKinnon Modi, Sanne Jilderda, et al.
Genomics
|
September 1, 1996
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
L R Osborne, D Martindale, S W Scherer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 1, 2014
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Chelsea Lowther, Gregory Costain, Dimitri J Stavropoulos, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
January 15, 2014
Autism spectrum disorder: advances in evidence-based practice
Evdokia Anagnostou, Lonnie Zwaigenbaum, Peter Szatmari, et al.
Genome Medicine
|
December 1, 2017
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Chelsea Lowther, Daniele Merico, Gregory Costain, et al.
Clinical Genetics
|
March 30, 2010
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
M A Rafiq, M Ansar, C R Marshall, et al.
Cell
|
August 23, 1996
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma
K Eppert, S W Scherer, H Ozcelik, et al.
American Journal of Medical Genetics. Part A
|
March 6, 2007
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay
Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez, et al.
Page
of 92
Search research articles
Search
Showing results (571-580 of 915) with videos related to
Sort By:
Page
of 92
NPJ Genomic Medicine
|
June 27, 2017
Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes
Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, et al.
NPJ Genomic Medicine
|
February 22, 2022
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Islam Oguz Tuncay, Nancy L Parmalee, Raida Khalil, et al.
NPJ Genomic Medicine
|
December 22, 2017
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage
Breanne Dale, Bonnie MacKinnon Modi, Sanne Jilderda, et al.
Genomics
|
September 1, 1996
Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients
L R Osborne, D Martindale, S W Scherer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 1, 2014
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
Chelsea Lowther, Gregory Costain, Dimitri J Stavropoulos, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
January 15, 2014
Autism spectrum disorder: advances in evidence-based practice
Evdokia Anagnostou, Lonnie Zwaigenbaum, Peter Szatmari, et al.
Genome Medicine
|
December 1, 2017
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Chelsea Lowther, Daniele Merico, Gregory Costain, et al.
Clinical Genetics
|
March 30, 2010
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan
M A Rafiq, M Ansar, C R Marshall, et al.
Cell
|
August 23, 1996
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma
K Eppert, S W Scherer, H Ozcelik, et al.
American Journal of Medical Genetics. Part A
|
March 6, 2007
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay
Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez, et al.
Page
of 92