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Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature
| Title: | Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature | Authors: | Papoulidis, Ioannis; Eleftheriades, Makarios; Manolakos, Emmanouil; Petersen, Michael B.; Liappi, Simoni Marina; Konstantinidou, Anastasia; Papamichail, Maria; Papadopoulos, Vassilios; Garas, Antonios; Sotiriou, Sotirios; | Issue Date: | 2022 | Publication: | Children | ISSN: | 2227-9067 Children-Basel Search Idenfier |
Publisher: | Basel, Switzerland : MDPI AG | Type: | Article | Collation: | vol. 9 br. 12 str. 1879 | DOI: | 10.3390/children9121879 | WoS-ID: | 000900466600001 | Scopus-ID: | 2-s2.0-85144698967 | PMID: | 36553323 | PMCID: | PMC9776937 | URI: | https://enauka.gov.rs/handle/123456789/802659 | URL: | https://www.mdpi.com/2227-9067/9/12/1879 | Metadata source: | (Preuzeto iz Nasi u WoS) | M-category: | 21M21 |
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