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American Journal of Medical Genetics. Part A
|
February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
Science Translational Medicine
|
March 30, 2022
A PI3Kγ mimetic peptide triggers CFTR gating, bronchodilation, and reduced inflammation in obstructive airway diseases
Alessandra Ghigo, Alessandra Murabito, Valentina Sala, et al.
European Journal of Human Genetics : EJHG
|
April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
Journal of Medical Genetics
|
January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations
Médéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
Human Mutation
|
March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
Christina Zeitz, Christelle Michiels, Marion Neuillé, et al.
Plos Genetics
|
September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Claire S Leblond, Caroline Nava, Anne Polge, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
Global Change Biology
|
February 21, 2020
Climate-induced changes in the suitable habitat of cold-water corals and commercially important deep-sea fishes in the North Atlantic
Telmo Morato, José-Manuel González-Irusta, Carlos Dominguez-Carrió, et al.
Journal of Medical Genetics
|
April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Journal of Medical Genetics
|
April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
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Search research articles
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Showing results (321-330 of 332) with videos related to
Sort By:
Page
of 34
American Journal of Medical Genetics. Part A
|
February 29, 2024
3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier, Martine Doco-Fenzy, Matthieu Egloff, et al.
Science Translational Medicine
|
March 30, 2022
A PI3Kγ mimetic peptide triggers CFTR gating, bronchodilation, and reduced inflammation in obstructive airway diseases
Alessandra Ghigo, Alessandra Murabito, Valentina Sala, et al.
European Journal of Human Genetics : EJHG
|
April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutations
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.
Journal of Medical Genetics
|
January 11, 2025
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations
Médéric Jeanne, Nathalie Ronce, Solène Remizé, et al.
Human Mutation
|
March 3, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders
Christina Zeitz, Christelle Michiels, Marion Neuillé, et al.
Plos Genetics
|
September 5, 2014
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Claire S Leblond, Caroline Nava, Anne Polge, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.
Global Change Biology
|
February 21, 2020
Climate-induced changes in the suitable habitat of cold-water corals and commercially important deep-sea fishes in the North Atlantic
Telmo Morato, José-Manuel González-Irusta, Carlos Dominguez-Carrió, et al.
Journal of Medical Genetics
|
April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Journal of Medical Genetics
|
April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Page
of 34