Results 241 to 250 of about 29,876 (307)

Novel Mutations of the Transglutaminase 1 Gene in Lamellar Ichthyosis

, 2001
Jun-Mo Yang, Kwang-Sung Ahn, Mi-Ook Cho, Kozo Yoneda, Cha-Hui Lee, Joo‐Heung Lee, Eil-Soo Lee, Eleonora Candi, Gerry Melino, Bijan Ahvazi, Peter M. Steinert   +10 more
openalex   +1 more source

A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project. [PDF]

Genes (Basel)
Steiner CE, Puzzi MB, Marques-de-Faria AP, de Oliveira Sobrinho RP, Gil-da-Silva-Lopes VL, Moreno CA, The Rare Genomes Project Consortium.   +6 more
europepmc   +1 more source

X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report. [PDF]

Medicine (Baltimore)
Shi X, Lv Y, Jiang Y, Pan P, Cai Y.
europepmc   +1 more source

Ichthyosis Prematurity Syndrome. [PDF]

Australas J Dermatol
Li GX, Chen K, Sebaratnam DF, Pham JP.
europepmc   +1 more source

Case of Ichthyosis [PDF]

Proceedings of the Royal Society of Medicine, 1912
openaire   +2 more sources

Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India. [PDF]

Ann Indian Acad Neurol
Gowda VK, Srinivasan VM, Krishnanada V, Sathyakumar R, Mahadevan A.   +4 more
europepmc   +1 more source

Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V

, 2002
Jay R Montgomery, Bryan Martin, Isabelle Olivos‐Glander, Marie Turner, Dirk Darnell, Steven M. Holland   +5 more
openalex   +1 more source

Role of Polyethylene Glycol in Dermatology. [PDF]

Indian Dermatol Online J
Patel V, Gaurav V.
europepmc   +1 more source

Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature. [PDF]

Pediatr Dermatol
Maarouf S, Clark M, Chen A, Haggstrom A.
europepmc   +1 more source

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

, 2013
Uitto, Jouni
core   +1 more source