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Journal of Vitreoretinal Diseases|October 20, 2025
Efficacy of Intravitreal Pegcetacoplan vs Avacincaptad Pegol in Patients With Geographic AtrophyPaul Hahn, David Eichenbaum, Dilsher S Dhoot, et al.American Journal of Human Genetics|April 14, 2000
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brainR L Touraine, T Attié-Bitach, E Manceau, et al.Presse Medicale (Paris, France : 1983)|February 28, 2001
[Incidence of symptomatic celiac disease in French children]J J Baudon, A Dabadie, J Cardona, et al.Journal of Medical Genetics|January 3, 2001
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesP de Lonlay, N Seta, S Barrot, et al.The British Journal of Dermatology|August 25, 2018
Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patientsD Bessis, F Morice-Picard, E Bourrat, et al.The British Journal of Dermatology|November 13, 2018
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutationD Bessis, J Miquel, E Bourrat, et al.Human Mutation|November 7, 2009
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndromeV Laugel, C Dalloz, M Durand, et al.Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, et al.Pageof 17