Results 221 to 230 of about 31,665 (304)

Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis [PDF]

, 2016

core   +1 more source

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: A case report and review of cases reported from India

, 2019
Anupama Bains, Deepak Vedant, Anurag Verma, Abhishek Bhardwaj, Aasma Nalwa   +4 more
openalex   +1 more source

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

European Journal of Human Genetics, 2017
L. Youssefian, H. Vahidnezhad, A. Saeidian, S. Sotoudeh, H. Mahmoudi, M. Daneshpazhooh, N. Aghazadeh, Rebecca N. Adams, A. Ghanadan, S. Zeinali, P. Fortina, J. Uitto   +11 more
semanticscholar   +1 more source

Hypodontia in a child with keratitis-ichthyosis-deafness (KID) syndrome: a case report. [PDF]

J Med Case Rep
Saleh TS, Poulsen T, Nyman JE.
europepmc   +1 more source

A Case of Myxedema Coma in a 48-Year-Old Female Presenting With Altered Mental Status Post-trauma. [PDF]

Cureus
Gurumoorthy RB, Gonzales L.
europepmc   +1 more source

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing. [PDF]

Cureus
Phipps J, Popescu O.
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

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

Proliferation and differentiation of cultured epidermal cells from patients with X-linked ichthyosis and ichthyosis vulgaris.

, 1990
P. K. A. Jensen, F. H. Herrmann, Janaína Conte Hadlich, Lars Bolund   +3 more
openalex   +2 more sources