PUF60 loss‐of‐function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome
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Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Journal Article
National Rapid Genome Sequencing in Neonatal Intensive Care
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Published in JAMA network open (05.02.2024)
Published in JAMA network open (05.02.2024)
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Journal Article