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1 Ergebnisse
1
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative ..:
Marin-Valencia, Isaac
;
Gerondopoulos, Andreas
;
Zaki, Maha S
...
qt1hf0v9cn. , 2017
Link:
https://escholarship.org/uc/item/1hf0v9cn
RT Journal T1
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt1hf0v9cn&Exemplar=1&LAN=DE A1 Marin-Valencia, Isaac A1 Gerondopoulos, Andreas A1 Zaki, Maha S A1 Ben-Omran, Tawfeg A1 Almureikhi, Mariam A1 Demir, Ercan A1 Guemez-Gamboa, Alicia A1 Gregor, Anne A1 Issa, Mahmoud Y A1 Appelhof, Bart A1 Roosing, Susanne A1 Musaev, Damir A1 Rosti, Basak A1 Wirth, Sara A1 Stanley, Valentina A1 Baas, Frank A1 Barr, Francis A A1 Gleeson, Joseph G PB eScholarship, University of California YR 2017 K1 Biochemistry and Cell Biology K1 Biological Sciences K1 Clinical Research K1 Neurosciences K1 Genetics K1 Adolescent K1 Animals K1 Cerebellar Diseases K1 Child K1 Preschool K1 Female K1 GTPase-Activating Proteins K1 HeLa Cells K1 Homozygote K1 Humans K1 Male K1 Microcephaly K1 Mutation K1 Pedigree K1 Phenotype K1 Zebrafish K1 TBC1D23 K1 ataxia K1 intellectual disability K1 pontocerebellar hypoplasia K1 Medical and Health Sciences K1 Genetics & Heredity K1 Biomedical and clinical sciences K1 Health sciences JF qt1hf0v9cn LK http://dx.doi.org/https://escholarship.org/uc/item/1hf0v9cn DO https://escholarship.org/uc/item/1hf0v9cn SF ELIB - SuUB Bremen
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