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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.
American Journal of Human Genetics
|
November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, 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.
Updates in Surgery
|
August 16, 2025
Education and training of surgical residents in upper gastrointestinal surgery: a European survey
Călin Popa, Diana Schlanger, Alberto Aiolfi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications
|
November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics
|
March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
PNAS Nexus
|
August 22, 2022
Predicting attitudinal and behavioral responses to COVID-19 pandemic using machine learning
Tomislav Pavlović, Flavio Azevedo, Koustav De, et al.
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Search research articles
Search
Showing results (171-180 of 184) with videos related to
Sort By:
Page
of 19
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.
American Journal of Human Genetics
|
November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, 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.
Updates in Surgery
|
August 16, 2025
Education and training of surgical residents in upper gastrointestinal surgery: a European survey
Călin Popa, Diana Schlanger, Alberto Aiolfi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske van Woerden, et al.
Nature Communications
|
November 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics
|
March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
Elsa Leitão, Amandine Santini, Benjamin Cogne, et al.
PNAS Nexus
|
August 22, 2022
Predicting attitudinal and behavioral responses to COVID-19 pandemic using machine learning
Tomislav Pavlović, Flavio Azevedo, Koustav De, et al.
Page
of 19