Results 231 to 240 of about 8,285 (255)

Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome

Human Molecular Genetics, 2015
Huijun Wang, Xu Cao, Zhimiao Lin
exaly  

Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice

Journal of Biological Chemistry, 2007
Karin List, Tiffany C Scharschmidt, Roman Szabo   +2 more
exaly  

Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis

Pediatric Dermatology, 2011
Khalid Al, Aboud, Daifullah Al, Aboud
openaire   +2 more sources

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Nature Genetics, 2009
Yaran Wen, Sven Cichon, Markus M Nöthen
exaly  

Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing

Journal of Investigative Dermatology, 2009
Hans Christian Hennies
exaly  

Oculomandibulodyscephaly with hypotrichosis

The Journal of Pediatrics, 1967
openaire   +1 more source

Congenital hypotrichosis in two dogs

Journal of the American Veterinary Medical Association, 1984
openaire   +2 more sources

A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

Journal of Investigative Dermatology, 2012
Muhammad Farooq, Asuka Inoue, Manabu Ohyama   +2 more
exaly  

A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis

Human Genetics, 2007
Ghazanfar Ali, Wasim Ahmad
exaly  

A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats

PLoS ONE, 2015
Marie Abitbol, Laurent Tiret
exaly