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Philippe Petiot

Showing results (31-40 of 36) with videos related to

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Brain : a Journal of Neurology|December 11, 2023
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisJulia Zibold, Lola E R Lessard, Flavien Picard, et al.
Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.
The New England Journal of Medicine|December 23, 2011
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathyOlivia Boyer, Fabien Nevo, Emmanuelle Plaisier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.
Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.
Circulation|June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesKarim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
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Showing results (31-40 of 36) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 36 results.
Brain : a Journal of Neurology|December 11, 2023
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisJulia Zibold, Lola E R Lessard, Flavien Picard, et al.
Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.
The New England Journal of Medicine|December 23, 2011
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathyOlivia Boyer, Fabien Nevo, Emmanuelle Plaisier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.
Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.
Circulation|June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesKarim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.
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