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European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
International Journal of Molecular Sciences|December 24, 2021
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2ALuke Mansard, David Baux, Christel Vaché, et al.
European Journal of Medical Genetics|November 4, 2010
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypesElise Schaefer, Myriam Durand, Corinne Stoetzel, et al.
BMC Medical Genetics|May 2, 2006
Eight previously unidentified mutations found in the OA1 ocular albinism geneHélène Mayeur, Olivier Roche, Christelle Vêtu, et al.
Human Molecular Genetics|August 20, 2004
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathyClaire L Navarro, Annachiara De Sandre-Giovannoli, Rafaëlle Bernard, et al.
Human Mutation|July 27, 2019
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4Nadja Ballin, Alrun Hotz, Emmanuelle Bourrat, et al.
European Journal of Human Genetics : EJHG|March 17, 2005
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohortHaifa Hichri, Corinne Stoetzel, Virginie Laurier, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 24, 2019
Warburg-like effect is a hallmark of complex I assembly defectsValerie Desquiret-Dumas, Geraldine Leman, Celine Wetterwald, et al.
Human Mutation|June 15, 2007
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndromePascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, et al.
Investigative Ophthalmology & Visual Science|February 5, 2017
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ MiceJuan Manuel Chao de la Barca, Gilles Simard, Emmanuelle Sarzi, et al.
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