Results 181 to 190 of about 77,152 (265)

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

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

, 2013
Uitto, Jouni
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

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

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

Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears. [PDF]

, 2018
Fackler, Nathan, Kim, Dong Joo, Sarpa, Hege Grande, Smith, Janellen, Zachary, Cameron   +4 more
core  

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

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases. [PDF]

Acta Derm Venereol
Xiang R, Huang X, Liu Y, Sun S, Hua D, Mo R, Yang Y, Chen Z.   +7 more
europepmc   +1 more source

Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy. [PDF]

Int J Mol Sci
Ponomarev A, Ganiev I, Aimaletdinov A, Mansurova M, Titova A, Rizvanov A, Solovyeva V.   +6 more
europepmc   +1 more source

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing <i>Trichophyton rubrum</i> Infection and Blocker Displacement Amplification for Mosaic Mutation Detection. [PDF]

Biomedicines
Liu J, Fu Y, Zhang Q, Chen Q, Yang Y, Xue Y, Ren Y.   +6 more
europepmc   +1 more source

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]

Clin Case Rep
Nagshabandi KN, Alsalhi A.
europepmc   +1 more source