Results 161 to 170 of about 5,711 (254)

Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity. [PDF]

Acta Derm Venereol
Gutiérrez-Cerrajero C, Gestoso-Uzal N, Ortiz-Cabrera NV, González-Sarmiento R, Hernández-Martín Á.   +4 more
europepmc   +1 more source

Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis

, 2008
Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova, Lawrence Shapiro, Angela M. Christiano   +4 more
openalex   +1 more source

Faculty Opinions recommendation of A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles.

, 2009
Abraham Zlotogorski, Yuval Ramot
openalex   +2 more sources

Hereditary Hypotrichosis in the Rat (Mus Norvegicus)

Journal of Investigative Dermatology, 1940
L C Thomas, J H Quisenberry, E. Roberts
openaire   +2 more sources

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis [PDF]

, 2016
Adase, Christopher A, Adir, Noam, Ast, Gil, Bochner, Ron, Campbell, Linda E., Erez, Noam, Fainberg, Gilad, Gallo, Richard L., Gat, Andrea, Goldberg, Ilan, Gottlieb, Yehonatan, Isakov, Ofer, Li, Qiaoli, MacCallum, Stephanie, Malchin, Natalia, McLean, W. H. Irwin, Pavlovsky, Mor, Peled, Alon, Rogers, Tova, Samuelov, Liat, Sandilands, Aileen, Sarig, Ofer, Shayevitch, Ronna, Shomron, Noam, Sprecher, Eli, Uitto, Jouni, Vodo, Dan, Warshauer, Emily, Yu, Benjamin D.   +28 more
core   +2 more sources

Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]

Cureus, 2023
Zaki H.
europepmc   +1 more source

Mutations in Lipase H Gene Underlie Autosomal Recessive Hypotrichosis in Five Pakistani Families

, 2010
U.‐E Kalsoom, Rabia Habib, Bushra Khan, Ghazanfar Ali, Nida Ali, Muhammad Ansar, Wasim Ahmad   +6 more
openalex   +2 more sources

Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

, 2014
Kana Tanahashi, Kazumitsu Sugiura, Michihiro Kono, Hiromichi Takama, Nobuyuki Hamajima, Masashi Akiyama   +5 more
openalex   +2 more sources

CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

, 2017
Ömer Kartı, Saygın Abalı, Zi̇ya Ayhan, Eylem Gokmeydan, Serhad Nalçacı, Aylın Yaman, Ali Osman Saatçi   +6 more
openalex   +1 more source

Effectiveness of expanded prenatal screening among consanguineous couples of Afghan descent. [PDF]

AJOG Glob Rep
Osman N, Rhee L, Boe N, Hedriana H, Singh K.   +4 more
europepmc   +1 more source