Results 151 to 160 of about 5,711 (254)

LB1782 A new gene ADAM17 for the autosomal dominant inheritance of hypotrichosis [PDF]

, 2023
Chuanying Pan, X. Wang, Zhirong Yao, Ming Li   +3 more
openalex   +1 more source

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

, 2003
Margarita Indelman, Richard N. Bergman, Michal Ramon, Eli Sprecher, Christian Hamel, Ken K. Nischal, Dorothy Thompson, Marie-Odile Surget, Hatam Ganthos, Benjamin T. Miller, Gabriele Richard, Raziel Lurie, Rina Leibu, Isabelle Russell‐Eggitt   +13 more
openalex   +1 more source

Hypotrichosis with juvenile macular degeneration [PDF]

, 2020

openalex   +1 more source

Exome sequencing reveals mutation inGJA1as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome [PDF]

, 2015
Huijun Wang, Xu Cao, Zhimiao Lin, Ming-Yang Lee, Xinying Jia, Yali Ren, Lanlan Dai, Liping Guan, Jianguo Zhang, Xuan Lin, Jie Zhang, Quan Chen, Feng Cheng, Eray Yihui Zhou, Jinghua Yin, Guiwen Xu, Yong Yang   +16 more
openalex   +1 more source

A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome [PDF]

, 2017
Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto   +6 more
openalex   +1 more source

A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

, 2005
Andrew G. Messenger, Hisham Bazzi, Richard Parslew, Lawrence Shapiro, Angela M. Christiano   +4 more
openalex   +1 more source

Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families [PDF]

, 2017
Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad   +7 more
openalex   +1 more source

078 Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin

, 2021
A. Peled, Liat Samuelov, Ofer Sarig, Ron Bochner, Liron Malki, Mor Pavlovsky, Edward Pichinuk, Miguel Weil, Eli Sprecher   +8 more
openalex   +1 more source

Epidermal barrier disorders and corneodesmosome defects [PDF]

, 2014
Marek Haftek
core   +1 more source

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy

, 2022
Yunqing Ren, Jipeng Liu, Dianyi Yao, Huixia Hua, Xiaoxuan Guo, Huatuo Dai, N. H. Dang, Yan Huang, Dianhe Yu   +8 more
openalex   +1 more source