Results 181 to 190 of about 5,635 (205)

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Genetics in Medicine, 2020
Regina Betz, Liat Samuelov, Amy Paller   +2 more
exaly  

Hypotrichosis

2012
openaire   +1 more source

Pili Annulati Masquerading As Hypotrichosis

Pediatric Dermatology, 2013
Valerie, Laniosz, Joshua O, Podjasek, Michael J, Camilleri, Jennifer L, Hand   +3 more
openaire   +2 more sources

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

Clinical Genetics, 2011
Musharraf Jelani, Wasim Ahmad, Sulman Basit   +2 more
exaly  

Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance

Ophthalmic Genetics, 1995
Eric Souied, E Souied
exaly  

A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)

Clinical Genetics, 2008
Musharraf Jelani, Naveed Wasif, Wasim Ahmad   +2 more
exaly  

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS)

European Journal of Medical Genetics, 2018
Alberto Plaja, Anna Sabate Rotes, Eduardo F Tizzano   +2 more
exaly  

Oculomandibulodyscephaly with hypotrichosis

The Journal of Pediatrics, 1967
openaire   +1 more source

Oculomandibulodyscephaly with hypotrichosis

2004
openaire   +1 more source

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)

Journal of Dermatological Science, 2009
Muahmmad Ansar, Abdul Wali, Bushra Khan   +2 more
exaly