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

Title	Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
Author	Del Greco Christina
Co-authors	Kuo Molly E.
	Smith Desiree E. C.
	Mendes Marisa I.
	Salamons Gaja S.
	Nemčovič Marek 1973- SAVCHEM - Chemický ústav SAV
	Kodríková Rebeka SAVCHEM - Chemický ústav SAV
	Šesták Sergej 1960 SAVCHEM - Chemický ústav SAV
	Stancheva Malina
	Antonelis Anthony
Source document	Molecular Genetics & Genomic Medicine. Vol. 13 (2025), e70078
Category	ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus
Category of document (from 2022)	V3 - Vedecký výstup publikačnej činnosti z časopisu
Type of document	článok
Year	2025
DOI	10.1002/mgg3.70078

	File name	Access	Size	Downloaded	Type	License
	Loss-of-Function CARS1 Variants in a Patient With.pdf	available	1.2 MB	10	Author's preprint	CC BY NC ND 4.0

article

article

2.Weak Superconductivity

Title	Weak Superconductivity : proceedings of the Seventh International Symposium
Alternative title	proceedings of the Seventh International Symposium
Another authors	Beňačka Štefan 1933 SAVELEK - Elektrotechnický ústav SAV
	Seidel P.
	Štrbík Vladimír 1954 SAVELEK - Elektrotechnický ústav SAV
Issue data	Bratislava : IEE SAS , 1994
Category	FAI - Editorial work on book publications (bibliographies, encyclopedias, catalogues, dictionaries, collective publications/proceedings, atlases ...)
Year	1994
References	(11) Publication Activity of SAV - Articles

book

book

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