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Human Mutation|December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.
The Journal of Allergy and Clinical Immunology|July 4, 2006
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizationsStephan Weidinger, Thomas Illig, Hansjörg Baurecht, et al.
The Journal of Investigative Dermatology|September 4, 2019
Filaggrin Expression and Processing Deficiencies Impair Corneocyte Surface Texture and Stiffness in MiceJacob P Thyssen, Ivone Jakasa, Christoph Riethmüller, et al.
The Journal of Investigative Dermatology|July 24, 2015
Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis VulgarisDorottya M Berki, Lu Liu, Siew-Eng Choon, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
The Journal of Allergy and Clinical Immunology|June 16, 2015
Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakinMaeve A McAleer, Elizabeth Pohler, Frances J D Smith, et al.
JAMA Dermatology|October 23, 2024
Upadacitinib in Adolescents With Moderate to Severe Atopic Dermatitis: Analysis of 3 Phase 3 Randomized Clinical Trials Through 76 WeeksAmy S Paller, Pedro Mendes-Bastos, Elaine Siegfried, et al.
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