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Clinical Genetics|September 10, 2004
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneityH Blons, D Feldmann, V Duval, et al.
Sexual Medicine|May 20, 2026
Development and validation of PEYRO-Q: a novel multidimensional patient-reported outcome measure for Peyronie's diseaseAndrea Cocci, Mattia Lo Re, Marta Pezzoli, et al.
Orphanet Journal of Rare Diseases|July 21, 2019
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual DisabilityJill Clayton-Smith, Rebecca Bromley, John Dean, et al.
Journal of the American Chemical Society|November 29, 2022
Photochemical Ring-Opening Reaction of 1,3-Cyclohexadiene: Identifying the True Reactive StateOksana Travnikova, Tomislav Piteša, Aurora Ponzi, et al.
European Journal of Medical Genetics|November 3, 2009
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French seriesSylvie Jaillard, Séverine Drunat, Claude Bendavid, et al.
Physical Review Letters|November 22, 2014
High resolution multiphoton spectroscopy by a tunable free-electron-laser lightM Žitnik, A Mihelič, K Bučar, et al.
Nature Communications|January 6, 2018
Acetylacetone photodynamics at a seeded free-electron laserR J Squibb, M Sapunar, A Ponzi, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chipMarianne Lévêque, Sandrine Marlin, Laurence Jonard, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
American Journal of Medical Genetics. Part A|April 5, 2008
Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control studyMirande Candito, Romain Rivet, Bernard Herbeth, et al.
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