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1 Ergebnisse
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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neuro..:
Chai, Guoliang
;
Webb, Alice
;
Li, Chen
...
qt6w53352f. , 2021
Link:
https://escholarship.org/uc/item/6w53352f
RT Journal T1
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt6w53352f&Exemplar=1&LAN=DE A1 Chai, Guoliang A1 Webb, Alice A1 Li, Chen A1 Antaki, Danny A1 Lee, Sangmoon A1 Breuss, Martin W A1 Lang, Nhi A1 Stanley, Valentina A1 Anzenberg, Paula A1 Yang, Xiaoxu A1 Marshall, Trevor A1 Gaffney, Patrick A1 Wierenga, Klaas J A1 Chung, Brian Hon-Yin A1 Tsang, Mandy Ho-Yin A1 Pais, Lynn S A1 Lovgren, Alysia Kern A1 VanNoy, Grace E A1 Rehm, Heidi L A1 Mirzaa, Ghayda A1 Leon, Eyby A1 Diaz, Jullianne A1 Neumann, Alexander A1 Kalverda, Arnout P A1 Manfield, Iain W A1 Parry, David A A1 Logan, Clare V A1 Johnson, Colin A A1 Bonthron, David T A1 Valleley, Elizabeth MA A1 Issa, Mahmoud Y A1 Abdel-Ghafar, Sherif F A1 Abdel-Hamid, Mohamed S A1 Jennings, Patricia A1 Zaki, Maha S A1 Sheridan, Eamonn A1 Gleeson, Joseph G PB eScholarship, University of California YR 2021 K1 Biological Psychology K1 Biomedical and Clinical Sciences K1 Neurosciences K1 Psychology K1 Rare Diseases K1 Genetics K1 Neurodegenerative K1 Brain Disorders K1 Orphan Drug K1 Human Genome K1 Aetiology K1 2.1 Biological and endogenous factors K1 Neurological K1 Amino Acid Sequence K1 Animals K1 Cell Cycle Proteins K1 Cerebellar Diseases K1 Cohort Studies K1 Female K1 Gene Knockout Techniques K1 HEK293 Cells K1 Heredodegenerative Disorders K1 Nervous System K1 Humans K1 Male K1 Mice K1 Inbred C57BL K1 Transgenic K1 Microcephaly K1 Mutation K1 Pedigree K1 Peptidylprolyl Isomerase K1 Protein Structure K1 Secondary K1 Tertiary K1 RNA Splicing Factors K1 Spliceosomes K1 NMR K1 PCHM K1 PPIL1 K1 PRP17 K1 alternative splicing K1 brain development K1 cyclophilin K1 neurodegeneration K1 pontocerebellar hypoplasia JF qt6w53352f LK http://dx.doi.org/https://escholarship.org/uc/item/6w53352f DO https://escholarship.org/uc/item/6w53352f SF ELIB - SuUB Bremen
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