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Prenatal phenotype of PNKP-related primary microcephaly ass..:
Neuser, Sonja
;
krey, ilona
;
Schwan, Annemarie
...
https://repository.publisso.de/resource/frl:6442760. , 2021
Link:
https://repository.publisso.de/resource/frl:6442760
RT Journal T1
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
UL https://suche.suub.uni-bremen.de/peid=base-ftzbmed:oai:frl.publisso.de:frl:6442760&Exemplar=1&LAN=DE A1 Neuser, Sonja A1 krey, ilona A1 Schwan, Annemarie A1 Abou Jamra, Rami A1 Bartolomaeus, Tobias A1 Döring, Jan A1 Syrbe, Steffen A1 Plassmann, Margit A1 Rohde, Stefan A1 Roth, Christian A1 Rehder, Helga A1 Radtke, Maximilian A1 Le Duc, Diana A1 Schubert, Susanna A1 Bermudez-Guzman, Luis A1 Leal, Alejandro A1 Schoner, Katharina A1 Popp, Bernt YR 2021 K1 Female [MeSH] K1 Prenatal Diagnosis [MeSH] K1 Adult [MeSH] K1 Humans [MeSH] K1 DNA Repair Enzymes/genetics [MeSH] K1 Protein Domains [MeSH] K1 Paediatric neurological disorders K1 Phosphotransferases (Alcohol Group Acceptor)/genetics [MeSH] K1 Mutation K1 Missense [MeSH] K1 Genetics research K1 DNA Repair Enzymes/chemistry [MeSH] K1 Article K1 RNA Splicing [MeSH] K1 Male [MeSH] K1 Microcephaly/diagnosis [MeSH] K1 Microcephaly/genetics [MeSH] K1 Phosphotransferases (Alcohol Group Acceptor)/chemistry [MeSH] K1 Phenotype [MeSH] K1 RNA splicing K1 Genetic testing K1 Fetus/abnormalities [MeSH] JF https://repository.publisso.de/resource/frl:6442760 LK http://dx.doi.org/https://repository.publisso.de/resource/frl:6442760 DO https://repository.publisso.de/resource/frl:6442760 SF ELIB - SuUB Bremen
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