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Naslov Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study (Article)
Autori Nuovo Sara  ...  Brankovic Vesna  ...  (broj koautora 35) 
Info JOURNAL OF MEDICAL GENETICS, (2022), vol. 59 br. 4, str. 399-409
Projekat Ministry of Health [NET-2013-02356160, RC2018-2019-2020]; European Research Council (ERC Starting Grant)European Research Council (ERC) [260888]; Italian Ministry of University and Research (Progetto Dipartimenti di Eccellenza); Pierfranco and Luisa Maria
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Novel unconventional variants expand the allelic spectrum of OPHN1 gene (Article)
Autori Nuovo Sara  Brankovic Vesna  Caputi Caterina  Casella Antonella  Nigro Vincenzo  Leuzzi Vincenzo  Valente Enza Maria 
Info AMERICAN JOURNAL OF MEDICAL GENETICS PART A, (2021), vol. 185 br. 5, str. 1575-1581
Projekat Fondazione Pierfranco e Luisa Mariani (PADAPORT project); Fondazione TelethonFondazione TelethonEuropean Commission [GP15001]; H2020 European Research Council (ERC)European Research Council (ERC) [260888]; Ministero della SaluteMinistry of Health, Italy;
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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