Results 121 to 130 of about 5,713 (219)

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
Tamgadge A, Gomase K.
europepmc   +1 more source

Genodermatoses [PDF]

, 2013
Uitto, Jouni
core   +2 more sources

Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol. [PDF]

Saudi Med J
Alfahaad HA.
europepmc   +1 more source

Epidermal barrier disorders and corneodesmosome defects [PDF]

, 2014
Marek Haftek
core   +1 more source

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +1 more source

Severe staphylococcal scalded skin syndrome. [PDF]

IDCases
Nakyeyune ML, Bongomin F.
europepmc   +1 more source

Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]

, 2013
Uitto, Jouni
core   +1 more source

Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis. [PDF]

Indian Dermatol Online J
Tandon S, Muthyala R, Bhalla D, Yenamandra VK.   +3 more
europepmc   +1 more source

Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings. [PDF]

Cureus
Almarzooqi S, Salvo F.
europepmc   +1 more source

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport. [PDF]

J Clin Invest
Zhang Z, Huang S, Jackson A, Jones EA, Banka S, Yang C, Zhao S, Lv K, Peng S, Lin Z, Wang H.   +10 more
europepmc   +1 more source