Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

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Title	Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
Author	Del Greco Christina Nemčovič Marek 1973- SAVCHEM - Chemický ústav SAV
	Kodríková Rebeka SAVCHEM - Chemický ústav SAV
	Šesták Sergej 1960 SAVCHEM - Chemický ústav SAV

Co-authors	Kuo Molly E. Smith Desiree E. C. Mendes Marisa I. Salamons Gaja S. Stancheva Malina Antonelis Anthony
Source document	Molecular Genetics & Genomic Medicine. Vol. 13 (2025), e70078
Language	eng - English
Country	US - United States of America
Document kind	rozpis článkov z periodík (rbx)
Category	ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted)
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	článok
Year	2025
Registered in	WOS
Registered in	SCOPUS
DOI	10.1002/mgg3.70078

article

	File name	Access	Size	Downloaded	Type	License
	Loss-of-Function CARS1 Variants in a Patient With.pdf	available	1.2 MB	2	Author's preprint	CC BY NC ND 4.0

rok vydania	rok metriky	IF	IF Q (best)	SJR	SJR Q (best)
2025	2024			0.611	Q3

Number of the records: 1