Search research articles
Contact Us
Filters
Showing results (201-210 of 253) with videos related to
Page
of 26
Sort By:
Human Genetics
|
June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Jing Zhang, Tomasz Gambin, Bo Yuan, et al.
Nature Communications
|
February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 19, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, et al.
Human Genetics
|
March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Jing Zhang, Tomasz Gambin, Bo Yuan, et al.
Orphanet Journal of Rare Diseases
|
May 17, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, et al.
Frontiers in Cell and Developmental Biology
|
March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Estelle Colin, Yannis Duffourd, Martin Chevarin, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Davor Lessel, Claudia Schob, Sébastien Küry, et al.
Journal of Medical Genetics
|
June 25, 2025
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, et al.
American Journal of Human Genetics
|
November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
American Journal of Human Genetics
|
April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Médéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Page
of 26
Search research articles
Search
Showing results (201-210 of 253) with videos related to
Sort By:
Page
of 26
Human Genetics
|
June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Jing Zhang, Tomasz Gambin, Bo Yuan, et al.
Nature Communications
|
February 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 19, 2022
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
Eissa A Faqeih, Malak Ali Alghamdi, Marwa A Almahroos, et al.
Human Genetics
|
March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Jing Zhang, Tomasz Gambin, Bo Yuan, et al.
Orphanet Journal of Rare Diseases
|
May 17, 2011
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, et al.
Frontiers in Cell and Developmental Biology
|
March 17, 2023
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Estelle Colin, Yannis Duffourd, Martin Chevarin, et al.
American Journal of Human Genetics
|
November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Davor Lessel, Claudia Schob, Sébastien Küry, et al.
Journal of Medical Genetics
|
June 25, 2025
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau, et al.
American Journal of Human Genetics
|
November 11, 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Hadia Hijazi, Linda M Reis, Davut Pehlivan, et al.
American Journal of Human Genetics
|
April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Médéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Page
of 26