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World Journal of Gastroenterology|November 1, 2012
A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test resultsFabrice Airaud, Sébastien Küry, Isabelle Valo, et al.
Orphanet Journal of Rare Diseases|December 28, 2011
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2KJulien Cassereau, Arnaud Chevrollier, Dominique Bonneau, et al.
Journal of Magnetic Resonance Imaging : JMRI|October 27, 2009
Comparison of methods to assess quadriceps muscle volume using magnetic resonance imagingAntoine Nordez, Erwan Jolivet, Ingrid Südhoff, et al.
Pediatric Dermatology|August 10, 2020
Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutationClémence Briand, Louise Galmiche-Rolland, Pierre Vabres, et al.
Plos One|August 30, 2014
Prospective study of the evolution of blood lymphoid immune parameters during dacarbazine chemotherapy in metastatic and locally advanced melanoma patientsGrégoire Mignot, Alice Hervieu, Pierre Vabres, et al.
European Journal of Applied Physiology|August 5, 2004
Leptin, catecholamines and free fatty acids related to reduced recovery delays after trainingFrançois Denis Desgorces, Mounir Chennaoui, Danielle Gomez-Merino, et al.
American Journal of Medical Genetics. Part A|March 25, 2004
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestationsFabienne Giuliano, Albert David, Patrick Edery, et al.
Brain and Cognition|January 5, 2005
Arithmetic word-problem-solving in Huntington's diseasePhilippe Allain, Christophe Verny, Ghislaine Aubin, et al.
American Journal of Ophthalmology|December 4, 2003
The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 genePatrizia Amati-Bonneau, Sylvie Odent, Christelle Derrien, et al.
The Journal of Clinical Endocrinology and Metabolism|November 2, 2018
A New Case of PCSK1 Pathogenic Variant With Congenital Proprotein Convertase 1/3 Deficiency and Literature ReviewLucie Pépin, Estelle Colin, Marine Tessarech, et al.
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