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European Journal of Human Genetics (2)
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Showing 1–4 of 4 results

Advanced filters: Author: Ruth Sheffer Clear advanced filters

Topical phage therapy in a mouse model of Cutibacterium acnes-induced acne-like lesions

Bacteriophage therapy is evolving as a promising approach to tackling bacterial infection, even in the case of emerging antibiotic resistance. In this work, authors present the topical application of numerous Cutibacterium acnes phage in an in vivo mouse model of acne vulgaris.

Amit Rimon
Chani Rakov
Ronen Hazan
ResearchOpen Access22 Feb 2023
Nature Communications

Volume: 14, P: 1-18
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Ruth Sheffer
Michal Gur
Tamar Harel
Research11 Apr 2019
European Journal of Human Genetics

Volume: 27, P: 1419-1426
TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

Alaa AlTalbishi
Lina Zelinger
Dror Sharon
ResearchOpen Access19 Aug 2019
Scientific Reports

Volume: 9, P: 1-6
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Stephan Klebe
Alexander Lossos
Giovanni Stevanin
Research18 Jan 2012
European Journal of Human Genetics

Volume: 20, P: 645-649