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Gene
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February 17, 2022
Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study
Vanessa S Fear, Catherine A Forbes, Denise Anderson, et al.
Public Health Genomics
|
September 19, 2021
People with Cerebral Palsy and Their Family's Preferences about Genomics Research
Yana Alexandra Wilson, Sarah McIntyre, Emma Waight, et al.
Developmental Medicine and Child Neurology
|
April 20, 2022
Common data elements to standardize genomics studies in cerebral palsy
Yana A Wilson, Hayley Smithers-Sheedy, Katarina Ostojic, et al.
Clinical Genetics
|
April 18, 2021
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families
Fiona McKenzie, Kym Mina, Bert Callewaert, et al.
Journal of Medical Genetics
|
July 20, 2022
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Harold Matthews, Michiel Vanneste, Kaitlin Katsura, et al.
BMJ Paediatrics Open
|
August 14, 2025
Feasibility and clinical utility of daytime polysomnography performed in NICU to diagnose sleep disordered breathing in infants
Dimple Goel, Andrew Wilson, Anne O'Donnell, et al.
European Journal of Human Genetics : EJHG
|
October 27, 2016
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Hanns Lochmüller, Yann Le Cam, Anneliene H Jonker, et al.
Journal of Child Neurology
|
September 9, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review
Yana A Wilson, Natasha Garrity, Hayley Smithers-Sheedy, et al.
The Journal of Allergy and Clinical Immunology
|
February 13, 2007
Parental smoking impairs vaccine responses in children with atopic genotypes
Gareth Baynam, Siew-Kim Khoo, Julie Rowe, et al.
Nature Reviews. Drug Discovery
|
January 26, 2022
Research on rare diseases: ten years of progress and challenges at IRDiRC
Lucia Monaco, Galliano Zanello, Gareth Baynam, et al.
Page
of 18
Search research articles
Search
Showing results (81-90 of 178) with videos related to
Sort By:
Page
of 18
Gene
|
February 17, 2022
Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case study
Vanessa S Fear, Catherine A Forbes, Denise Anderson, et al.
Public Health Genomics
|
September 19, 2021
People with Cerebral Palsy and Their Family's Preferences about Genomics Research
Yana Alexandra Wilson, Sarah McIntyre, Emma Waight, et al.
Developmental Medicine and Child Neurology
|
April 20, 2022
Common data elements to standardize genomics studies in cerebral palsy
Yana A Wilson, Hayley Smithers-Sheedy, Katarina Ostojic, et al.
Clinical Genetics
|
April 18, 2021
Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families
Fiona McKenzie, Kym Mina, Bert Callewaert, et al.
Journal of Medical Genetics
|
July 20, 2022
Refining nosology by modelling variation among facial phenotypes: the RASopathies
Harold Matthews, Michiel Vanneste, Kaitlin Katsura, et al.
BMJ Paediatrics Open
|
August 14, 2025
Feasibility and clinical utility of daytime polysomnography performed in NICU to diagnose sleep disordered breathing in infants
Dimple Goel, Andrew Wilson, Anne O'Donnell, et al.
European Journal of Human Genetics : EJHG
|
October 27, 2016
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
Hanns Lochmüller, Yann Le Cam, Anneliene H Jonker, et al.
Journal of Child Neurology
|
September 9, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review
Yana A Wilson, Natasha Garrity, Hayley Smithers-Sheedy, et al.
The Journal of Allergy and Clinical Immunology
|
February 13, 2007
Parental smoking impairs vaccine responses in children with atopic genotypes
Gareth Baynam, Siew-Kim Khoo, Julie Rowe, et al.
Nature Reviews. Drug Discovery
|
January 26, 2022
Research on rare diseases: ten years of progress and challenges at IRDiRC
Lucia Monaco, Galliano Zanello, Gareth Baynam, et al.
Page
of 18