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American Journal of Human Genetics
|
May 4, 2020
Insufficient Evidence for "Autism-Specific" Genes
Scott M Myers, Thomas D Challman, Raphael Bernier, et al.
JAMA Psychiatry
|
December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
Andres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Genome Medicine
|
November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Sheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
American Journal of Medical Genetics. Part A
|
August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Journal of Medical Genetics
|
December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Human Genetics
|
September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Dervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
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Search research articles
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Showing results (11-20 of 19) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 19 results.
American Journal of Human Genetics
|
May 4, 2020
Insufficient Evidence for "Autism-Specific" Genes
Scott M Myers, Thomas D Challman, Raphael Bernier, et al.
JAMA Psychiatry
|
December 11, 2014
The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions
Andres Moreno-De-Luca, David W Evans, K B Boomer, et al.
Genome Medicine
|
November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
Sheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
American Journal of Medical Genetics. Part A
|
August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
Christine Shieh, Natasha Jones, Brigitte Vanle, et al.
Journal of Medical Genetics
|
December 21, 2021
<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Human Genetics
|
September 6, 2020
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Dervla M Connaughton, Rufeng Dai, Danielle J Owen, et al.
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of 2