Search research articles
Contact Us
Filters
Showing results (1021-1030 of 1,067) with videos related to
Page
of 107
Sort By:
European Journal of Neurology
|
August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy
Pauline Jaubert, Camille Loret, Tanya Stojkovic, et al.
Annals of Neurology
|
October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlations
Laura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Brain : a Journal of Neurology
|
March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.
European Journal of Human Genetics : EJHG
|
December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
Laurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Neurology. Genetics
|
September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Elizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics
|
July 31, 2025
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis
Carla Florencia Bolano-Diaz, Harmen Reyngoudt, Ian J Wilson, et al.
Medicine
|
May 7, 2014
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin
Yves Allenbach, Laurent Drouot, Aude Rigolet, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
March 14, 2024
Dermatoscopic patterns of cutaneous metastases: A multicentre cross-sectional study of the International Dermoscopy Society
Danica Tiodorovic, Jelena Stojkovic-Filipovic, Ashfaq Marghoob, et al.
Page
of 107
Search research articles
Search
Showing results (1021-1030 of 1,067) with videos related to
Sort By:
Page
of 107
European Journal of Neurology
|
August 1, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy
Pauline Jaubert, Camille Loret, Tanya Stojkovic, et al.
Annals of Neurology
|
October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlations
Laura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Brain : a Journal of Neurology
|
March 13, 2023
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort
Alexander de Bruyn, Federica Montagnese, Sonja Holm-Yildiz, et al.
European Journal of Human Genetics : EJHG
|
December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
Laurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Neurology. Genetics
|
September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Elizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Neurology. Genetics
|
July 31, 2025
Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis
Carla Florencia Bolano-Diaz, Harmen Reyngoudt, Ian J Wilson, et al.
Medicine
|
May 7, 2014
Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin
Yves Allenbach, Laurent Drouot, Aude Rigolet, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV
|
March 14, 2024
Dermatoscopic patterns of cutaneous metastases: A multicentre cross-sectional study of the International Dermoscopy Society
Danica Tiodorovic, Jelena Stojkovic-Filipovic, Ashfaq Marghoob, et al.
Page
of 107