Results 231 to 240 of about 29,876 (307)

A Novel EBP c.452A>G Mutation Identified in a Girl with Conradi-Hünermann-Happle Syndrome Presenting with Hydronephrosis. [PDF]

Appl Clin Genet
Qiao F, Zeng H, Zhang C, Wang Y, Wang Y, Zhou R, Meng L, Hu P, Xu Z.   +8 more
europepmc   +1 more source

Molecular Genetics of Autosomal Recessive Congenital Ichthyosis [PDF]

, 2000
Virolainen, Elina
core  

Inherited ichthyosis: Syndromic forms

Journal of dermatology (Print), 2016
K. Yoneda
semanticscholar   +1 more source

Cochlear Implant Challenges in Children with Ichthyosis: A Systematic Review. [PDF]

Genes (Basel)
Caragli V, Luppi L, Tegmeyer NC, Genovese E, Soloperto D.   +4 more
europepmc   +1 more source

Vitamin D: A New Promising Therapy for Congenital Ichthyosis

Pediatrics, 2016
G. Sethuraman, R. Marwaha, A. Challa, V. Yenamandra, L. Ramakrishnan, S. Thulkar, Vinod K. Sharma   +6 more
semanticscholar   +1 more source

Defying the Odds: A Case of Successfully Treated Harlequin Ichthyosis in Lebanon. [PDF]

Clin Case Rep
Hamam B, Saleh S, Yaacoub M, Chebbo H, Jalloul S, Karam K, Houmani R.   +6 more
europepmc   +1 more source

Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature. [PDF]

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

Aberrant Lipid Organization in Stratum Corneum of Patients with Atopic Dermatitis and Lamellar Ichthyosis

, 2001
Gonneke S. K. Pilgram, Debby C.J. Vissers, H. van der Meulen, Henk K. Koerten, Stan Pavel, Sjan Lavrijsen, Joke A. Bouwstra   +6 more
openalex   +1 more source

Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis. [PDF]

Anatol J Cardiol
Mutlu H, Kayıhan C, Ay A, Havan M, Ramoğlu MG, Uçar T, Kendirli T.   +6 more
europepmc   +1 more source