Search research articles
Contact Us
Filters
Showing results (21-30 of 173) with videos related to
Page
of 18
Sort By:
Journal of Medical Genetics
|
January 8, 2025
<i>FLNA</i> genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations
Henri Margot, Natalia Hernandez Poblete, Chloé Angelini, et al.
Clinical Neurology and Neurosurgery
|
October 11, 2008
Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease
Nathalie Damon-Perriere, Patrice Menegon, Anne Olivier, et al.
Experimental Neurology
|
October 27, 2019
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
Julien Cassereau, Arnaud Chevrollier, Philippe Codron, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
European Journal of Medical Genetics
|
January 26, 2012
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, et al.
Archives of Cardiovascular Diseases
|
August 11, 2020
The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy
Nicolas Junqua, Damien Legallois, Sophie Segard, et al.
Journal of Personalized Medicine
|
February 25, 2022
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2006
Behavioral and temperamental features of children with Costello syndrome
Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, et al.
Parkinsonism & Related Disorders
|
September 9, 2022
The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs
Katia Youssov, Etienne Audureau, Henri Vandendriessche, et al.
Clinical Kidney Journal
|
February 2, 2023
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, et al.
Page
of 18
Search research articles
Search
Showing results (21-30 of 173) with videos related to
Sort By:
Page
of 18
Journal of Medical Genetics
|
January 8, 2025
<i>FLNA</i> genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations
Henri Margot, Natalia Hernandez Poblete, Chloé Angelini, et al.
Clinical Neurology and Neurosurgery
|
October 11, 2008
Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease
Nathalie Damon-Perriere, Patrice Menegon, Anne Olivier, et al.
Experimental Neurology
|
October 27, 2019
Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K
Julien Cassereau, Arnaud Chevrollier, Philippe Codron, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
Caroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
European Journal of Medical Genetics
|
January 26, 2012
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, et al.
Archives of Cardiovascular Diseases
|
August 11, 2020
The value of electrocardiography and echocardiography in distinguishing Fabry disease from sarcomeric hypertrophic cardiomyopathy
Nicolas Junqua, Damien Legallois, Sophie Segard, et al.
Journal of Personalized Medicine
|
February 25, 2022
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, et al.
American Journal of Medical Genetics. Part A
|
April 1, 2006
Behavioral and temperamental features of children with Costello syndrome
Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, et al.
Parkinsonism & Related Disorders
|
September 9, 2022
The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs
Katia Youssov, Etienne Audureau, Henri Vandendriessche, et al.
Clinical Kidney Journal
|
February 2, 2023
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, et al.
Page
of 18