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Newborn screening for rare diseases: expanding the paradigm in the genomic era.

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Title: Newborn screening for rare diseases: expanding the paradigm in the genomic era.
Authors: Grošelj U; University Medical Centre Ljubljana, University Children's Hospital, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Source: Journal of perinatal medicine [J Perinat Med] 2025 Sep 29; Vol. 54 (1), pp. 116-122. Date of Electronic Publication: 2025 Sep 29 (Print Publication: 2026).
Publication Type: Journal Article; Review
Journal Info: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 0361031 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1619-3997 (Electronic) Linking ISSN: 03005577 NLM ISO Abbreviation: J Perinat Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Newborn screening for rare diseases: expanding the paradigm in the genomic era.
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  Data: <searchLink fieldCode="JN" term="%220361031%22">Journal of perinatal medicine</searchLink> [J Perinat Med] 2025 Sep 29; Vol. 54 (1), pp. 116-122. <i>Date of Electronic Publication: </i>2025 Sep 29 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Walter+De+Gruyter%22">Walter De Gruyter </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>0361031 <i>Publication Model: </i>Electronic-Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1619-3997 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203005577%22">03005577 </searchLink><i>NLM ISO Abbreviation: </i>J Perinat Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41002024
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      – Type: doi
        Value: 10.1515/jpm-2025-0363
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      – Code: eng
        Text: English
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        StartPage: 116
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      – TitleFull: Newborn screening for rare diseases: expanding the paradigm in the genomic era.
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            – D: 29
              M: 09
              Text: 2025 Sep 29
              Type: published
              Y: 2025
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              Value: 54
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              Value: 1
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            – TitleFull: Journal of perinatal medicine
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