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European Journal of Medical Genetics|August 8, 2008
Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?Gilles Morin, Christine Desenclos, Cécile Jeanpetit, et al.
Genetic Testing and Molecular Biomarkers|March 25, 2009
Dysferlinopathy in Chile: evidence of two novel mutations in the first reported casesJorge A Bevilacqua, Martin Krahn, Luis Pedraza, et al.
Nucleus (Austin, Tex.)|April 6, 2018
An overview of treatment strategies for Hutchinson-Gilford Progeria syndromeKarim Harhouri, Diane Frankel, Catherine Bartoli, et al.
Human Mutation|March 13, 2018
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospectsPatrice Bourgeois, Clothilde Esteve, Charlène Chaix, et al.
Advanced Biology|August 9, 2024
The Molecular Landscape of Premature Aging Diseases Defined by Multilayer Network ExplorationCécile Beust, Alberto Valdeolivas, Anthony Baptista, et al.
Human Molecular Genetics|December 29, 2025
Nucleoporin NUP210L and BAF-paralogue BAF-L redundantly ensure nuclear integrity and manchette microtubule organisation in mouse spermatidsMaha Al Dala Ali, Guy Longepied, Nicolas Lévy, et al.
Neuromuscular Disorders : NMD|December 5, 2006
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvementAndoni Echaniz-Laguna, Bertrand Degos, Céline Bonnet, et al.
Nucleic Acids Research|January 7, 2006
XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damageNicolas Lévy, Adeline Martz, Anne Bresson, et al.
European Journal of Human Genetics : EJHG|June 26, 2002
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disordersRafaëlle Bernard, Amandine Boyer, Philippe Nègre, et al.
Frontiers in Cell and Developmental Biology|December 10, 2021
The Dysferlin Transcript Containing the Alternative Exon 40a is Essential for Myocyte FunctionsOcéane Ballouhey, Sébastien Courrier, Virginie Kergourlay, et al.
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