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1 Ergebnisse
1
Biallelic FRA10AC1 variants cause a neurodevelopmental diso..:
von Elsner, Leonie
;
Chai, Guoliang
;
Schneeberger, Pauline E
...
qt33p8941r. , 2022
Link:
https://escholarship.org/uc/item/33p8941r
RT Journal T1
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt33p8941r&Exemplar=1&LAN=DE A1 von Elsner, Leonie A1 Chai, Guoliang A1 Schneeberger, Pauline E A1 Harms, Frederike L A1 Casar, Christian A1 Qi, Minyue A1 Alawi, Malik A1 Abdel-Salam, Ghada MH A1 Zaki, Maha S A1 Arndt, Florian A1 Yang, Xiaoxu A1 Stanley, Valentina A1 Hempel, Maja A1 Gleeson, Joseph G A1 Kutsche, Kerstin PB eScholarship, University of California YR 2022 K1 Brain Disorders K1 Neurosciences K1 Clinical Research K1 Intellectual and Developmental Disabilities (IDD) K1 Rare Diseases K1 Genetics K1 Aetiology K1 2.1 Biological and endogenous factors K1 DNA-Binding Proteins K1 Growth Disorders K1 Humans K1 Intellectual Disability K1 Membrane Proteins K1 Microcephaly K1 Neurodevelopmental Disorders K1 Nuclear Proteins K1 RNA Splice Sites K1 RNA-Binding Proteins K1 Repressor Proteins K1 exome sequencing K1 homozygous K1 major spliceosome K1 splicing K1 Medical and Health Sciences K1 Psychology and Cognitive Sciences K1 Neurology & Neurosurgery JF qt33p8941r LK http://dx.doi.org/https://escholarship.org/uc/item/33p8941r DO https://escholarship.org/uc/item/33p8941r SF ELIB - SuUB Bremen
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