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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Véronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Paul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Clinical Genetics
|
August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations
Laurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
Frontiers in Genetics
|
April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
American Journal of Human Genetics
|
February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Federico Tessadori, Karen Duran, Karen Knapp, et al.
European Journal of Human Genetics : EJHG
|
June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
European Journal of Human Genetics : EJHG
|
April 2, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
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Search research articles
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Showing results (171-180 of 188) with videos related to
Sort By:
Page
of 19
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 24, 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Véronique Caron, Nicolas Chassaing, Nicola Ragge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Paul Kuentz, Judith St-Onge, Yannis Duffourd, et al.
Clinical Genetics
|
August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations
Laurence Faivre, Jean-Charles Crépin, Manon Réda, et al.
Frontiers in Genetics
|
April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.
American Journal of Human Genetics
|
February 24, 2022
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
Federico Tessadori, Karen Duran, Karen Knapp, et al.
European Journal of Human Genetics : EJHG
|
June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2023
Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
European Journal of Human Genetics : EJHG
|
April 2, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 15, 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, et al.
Annals of Neurology
|
September 20, 2024
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.
Page
of 19