Results 141 to 150 of about 5,662 (212)

Genetic Heterogeneity in Lamellar Ichthyosis

Journal of Investigative Dermatology, 1996
Hohl, Daniel, Huber, Marcel
openaire   +1 more source

A case of lamellar ichthyosis with rickets and carcinoma of the hypopharynx.

Indian J Dermatol, 2014
Bubna AK, Veeraraghavan M, Anandan S, Rangarajan S.   +3 more
europepmc   +1 more source

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

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  

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

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

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