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Journal of Medical Genetics
|
January 26, 2020
Impacts of genomics on the health and social costs of intellectual disability
Brett Doble, Deborah Schofield, Carey-Anne Evans, et al.
European Journal of Medical Genetics
|
February 14, 2012
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
Katrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, et al.
Journal of Neurodevelopmental Disorders
|
August 8, 2018
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
Emma K Baker, David E Godler, Minh Bui, et al.
International Journal of Environmental Research and Public Health
|
March 28, 2024
The Healthcare and Societal Costs of Familial Intellectual Disability
Deborah Schofield, Rupendra Shrestha, Owen Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts
Claudine M Kraan, Quang M Bui, Mike Field, et al.
Scientific Reports
|
February 28, 2018
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Marta Arpone, Emma K Baker, Lesley Bretherton, et al.
Journal of Paediatrics and Child Health
|
February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testing
Rani Sachdev, Mike Field, Gareth S Baynam, et al.
JCO Precision Oncology
|
February 27, 2024
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
American Journal of Human Genetics
|
November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Elizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Journal of Medical Genetics
|
January 26, 2020
Impacts of genomics on the health and social costs of intellectual disability
Brett Doble, Deborah Schofield, Carey-Anne Evans, et al.
European Journal of Medical Genetics
|
February 14, 2012
A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability
Katrin Ounap, Helen Puusepp-Benazzouz, Maire Peters, et al.
Journal of Neurodevelopmental Disorders
|
August 8, 2018
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
Emma K Baker, David E Godler, Minh Bui, et al.
International Journal of Environmental Research and Public Health
|
March 28, 2024
The Healthcare and Societal Costs of Familial Intellectual Disability
Deborah Schofield, Rupendra Shrestha, Owen Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 30, 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts
Claudine M Kraan, Quang M Bui, Mike Field, et al.
Scientific Reports
|
February 28, 2018
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Marta Arpone, Emma K Baker, Lesley Bretherton, et al.
Journal of Paediatrics and Child Health
|
February 10, 2021
Paediatric genomic testing: Navigating medicare rebatable genomic testing
Rani Sachdev, Mike Field, Gareth S Baynam, et al.
JCO Precision Oncology
|
February 27, 2024
Cancer Risks Associated With <i>TP53</i> Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
American Journal of Human Genetics
|
November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Elizabeth E Palmer, Renee Carroll, Marie Shaw, et al.
Page
of 1