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1 Ergebnisse
1
Mutations in PNKP cause microcephaly, seizures and defects ..:
Shen, Jun
;
Gilmore, Edward C
;
Marshall, Christine A
...
qt9mn272n7. , 2010
Link:
https://escholarship.org/uc/item/9mn272n7
RT Journal T1
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt9mn272n7&Exemplar=1&LAN=DE A1 Shen, Jun A1 Gilmore, Edward C A1 Marshall, Christine A A1 Haddadin, Mary A1 Reynolds, John J A1 Eyaid, Wafaa A1 Bodell, Adria A1 Barry, Brenda A1 Gleason, Danielle A1 Allen, Kathryn A1 Ganesh, Vijay S A1 Chang, Bernard S A1 Grix, Arthur A1 Hill, R Sean A1 Topcu, Meral A1 Caldecott, Keith W A1 Barkovich, A James A1 Walsh, Christopher A PB eScholarship, University of California YR 2010 K1 Biological Sciences K1 Genetics K1 Pediatric K1 Neurodegenerative K1 Congenital Structural Anomalies K1 Epilepsy K1 Brain Disorders K1 Rare Diseases K1 Intellectual and Developmental Disabilities (IDD) K1 Neurosciences K1 Aetiology K1 2.1 Biological and endogenous factors K1 Child K1 Chromosomes K1 Human K1 Pair 19 K1 Consanguinity K1 DNA Repair K1 DNA Repair Enzymes K1 DNA Repair-Deficiency Disorders K1 Developmental Disabilities K1 Embryo K1 Mammalian K1 Family K1 Female K1 Genome-Wide Association Study K1 Humans K1 Infant K1 Male K1 Microcephaly K1 Mutation K1 Pedigree K1 Phosphotransferases (Alcohol Group Acceptor) K1 Polymorphism K1 Single Nucleotide K1 Seizures K1 Medical and Health Sciences K1 Developmental Biology K1 Agricultural biotechnology K1 Bioinformatics and computational biology JF qt9mn272n7 LK http://dx.doi.org/https://escholarship.org/uc/item/9mn272n7 DO https://escholarship.org/uc/item/9mn272n7 SF ELIB - SuUB Bremen
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