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Journal of Medical Genetics|September 20, 2005
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmentD Sanlaville, H C Etchevers, M Gonzales, et al.Nature Genetics|March 10, 2001
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingR Döffinger, A Smahi, C Bessia, et al.Clinical and Experimental Dermatology|November 18, 2020
Skin manifestations of COVID-19 in children: Part 3D Andina, A Belloni-Fortina, C Bodemer, et al.Clinical and Experimental Dermatology|November 12, 2020
Skin manifestations of COVID-19 in children: Part 1D Andina, A Belloni-Fortina, C Bodemer, et al.Clinical and Experimental Dermatology|November 9, 2020
Skin manifestations of COVID-19 in children: Part 2D Andina, A Belloni-Fortina, C Bodemer, et al.Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.Journal of the European Academy of Dermatology and Venereology : JEADV|February 12, 2026
European S2k guidelines on management of autoimmune blistering diseases in children and adolescentsA Nanda, B Tedbirt, C Bodemer, 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.The British Journal of Dermatology|March 3, 2021
Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensusM-C Brüggen, S T Le, S Walsh, et al.Pageof 38