Title : Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype Author : \q1013 Del Greco Christina \q Co-authors : \q1013 Kuo Molly E. \q : \q1013 Smith Desiree E. C. \q : \q1013 Mendes Marisa I. \q : \q1013 Salamons Gaja S. \q : \q12*sav_un_auth*1 0145819 \q \q1013 sav_un_auth*0145819 \d Nemčovič Marek 1973- \q SAVCHEM - Chemický ústav SAV : \q12*sav_un_auth*1 0231138 \q \q1013 sav_un_auth*0231138 \d Kodríková Rebeka \q SAVCHEM - Chemický ústav SAV : \q12*sav_un_auth*1 0151927 \q \q1013 sav_un_auth*0151927 \d Šesták Sergej 1960 \q SAVCHEM - Chemický ústav SAV : \q1013 Stancheva Malina \q : \q1013 Antonelis Anthony \q Source document : \q12**1 228525 \q 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