Search research articles
Contact Us
Filters
Showing results (201-210 of 216) with videos related to
Page
of 22
Sort By:
European Journal of Human Genetics : EJHG
|
June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
Brain : a Journal of Neurology
|
December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)
Sally Nijim, Mimi Kim, Melissa Denish, et al.
Genome Medicine
|
April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
European Journal of Human Genetics : EJHG
|
October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Neurology. Genetics
|
November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
American Journal of Human Genetics
|
October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics
|
November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Science Advances
|
March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Page
of 22
Search research articles
Search
Showing results (201-210 of 216) with videos related to
Sort By:
Page
of 22
European Journal of Human Genetics : EJHG
|
June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
Brain : a Journal of Neurology
|
December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)
Sally Nijim, Mimi Kim, Melissa Denish, et al.
Genome Medicine
|
April 20, 2021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, et al.
European Journal of Human Genetics : EJHG
|
October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson, François Lecoquierre, Gaël Nicolas, et al.
Neurology. Genetics
|
November 18, 2021
<i>PURA-</i>Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Katrine M Johannesen, Elena Gardella, Cathrine E Gjerulfsen, et al.
American Journal of Human Genetics
|
October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
American Journal of Human Genetics
|
November 4, 2017
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Fadi F Hamdan, Candace T Myers, Patrick Cossette, et al.
Science Advances
|
March 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, et al.
Page
of 22