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Orphanet Journal of Rare Diseases
|
February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
Aurore Curie, Tatjana Nazir, Amandine Brun, et al.
European Journal of Human Genetics : EJHG
|
October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
Liselot van der Laan, Karim Karimi, Kathleen Rooney, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
September 10, 2014
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients
Caroline Le Guiner, Marie Montus, Laurent Servais, et al.
Human Molecular Genetics
|
September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
Global Change Biology
|
May 13, 2024
Biological invasions are a population-level rather than a species-level phenomenon
Phillip J Haubrock, Ismael Soto, Danish A Ahmed, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
European Journal of Human Genetics : EJHG
|
November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Anne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
American Journal of Human Genetics
|
June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Wallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
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of 89
Search research articles
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Showing results (831-840 of 885) with videos related to
Sort By:
Page
of 89
Orphanet Journal of Rare Diseases
|
February 18, 2014
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia
Aurore Curie, Tatjana Nazir, Amandine Brun, et al.
European Journal of Human Genetics : EJHG
|
October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
Liselot van der Laan, Karim Karimi, Kathleen Rooney, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
September 10, 2014
Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients
Caroline Le Guiner, Marie Montus, Laurent Servais, et al.
Human Molecular Genetics
|
September 10, 2021
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
Anne Gregor, Tanja Meerbrei, Thorsten Gerstner, et al.
Global Change Biology
|
May 13, 2024
Biological invasions are a population-level rather than a species-level phenomenon
Phillip J Haubrock, Ismael Soto, Danish A Ahmed, et al.
European Journal of Human Genetics : EJHG
|
February 16, 2012
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
Sonja A de Munnik, Louise S Bicknell, Salim Aftimos, et al.
European Journal of Human Genetics : EJHG
|
November 16, 2021
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Anne-Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
November 28, 2017
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, et al.
American Journal of Human Genetics
|
June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
Wallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
Page
of 89