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Case report: KPTN gene-related syndrome associated with a s..:
Horn, Svea
;
Danyel, Magdalena
;
Erdmann, Nina
...
Frontiers in Neurology, 2023, 13,. , 2023
Link:
http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-19174
RT Journal T1
Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy
UL https://suche.suub.uni-bremen.de/peid=base-ftlinkoepinguniv:oai:DiVA.org:liu-191744&Exemplar=1&LAN=DE A1 Horn, Svea A1 Danyel, Magdalena A1 Erdmann, Nina A1 Boschann, Felix A1 Gunnarsson, Cecilia A1 Biskup, Saskia A1 Juengling, Jerome A1 Potratz, Cornelia A1 Prager, Christine A1 Kaindl, Angela M PB Linköpings universitet, Avdelningen för diagnostik och specialistmedicin; Linköpings universitet, Medicinska fakulteten; Region Östergötland, Klinisk genetik; Region Östergötland, Övr Regionledningskontoret; Charite Univ Med Berlin, Germany; Charite Univ Med Berlin, Germany; Praxis Humangenet Tubingen, Germany; Charite Univ Med Berlin, Germany; Charite Univ Med Berlin, Germany; Charite Univ Med Berlin, Germany; FRONTIERS MEDIA SA YR 2023 K1 KPTN gene K1 macrocephaly K1 neurodevelopment delay K1 epilepsy K1 splice site variant K1 Neurology K1 Neurologi JF Frontiers in Neurology, 2023, 13, LK http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191744 DO http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191744 SF ELIB - SuUB Bremen
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