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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
| Title: | Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study | Authors : | Nuovo, Sara; ...; Brankovic, Vesna; ...; (broj, koautora 35) | Issue Date: | 2021 | Publication: | JOURNAL OF MEDICAL GENETICS | ISSN: | 0022-2593 Journal of Medical Genetics Search Idenfier |
Type: | Article | Collation: | vol. 59 br. 4 str. 399-409 | DOI: | 10.1136/jmedgenet-2020-107497 | WoS-ID: | 000728642300001 | Scopus-ID: | 2-s2.0-85102197986 | URI: | https://enauka.gov.rs/handle/123456789/825291 | Project: | 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 |
Metadata source: | (Preuzeto iz Nasi u WoS) | M-category: | 21aM21a |
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