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1 Ergebnisse
1
De Novo VPS4A Mutations Cause Multisystem Disease with Abno..:
Rodger, Catherine
;
Flex, Elisabetta
;
Allison, Rachel J
...
https://www.repository.cam.ac.uk/handle/1810/312247. , 2020
Link:
https://www.repository.cam.ac.uk/handle/1810/312247
RT Journal T1
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_312247&Exemplar=1&LAN=DE A1 Rodger, Catherine A1 Flex, Elisabetta A1 Allison, Rachel J A1 Sanchis-Juan, Alba A1 Hasenahuer, Marcia A A1 Cecchetti, Serena A1 French, Courtney E A1 Edgar, James R A1 Carpentieri, Giovanna A1 Ciolfi, Andrea A1 Pantaleoni, Francesca A1 Bruselles, Alessandro A1 Genomics England Research Consortium A1 Onesimo, Roberta A1 Zampino, Giuseppe A1 Marcon, Francesca A1 Siniscalchi, Ester A1 Lees, Melissa A1 Krishnakumar, Deepa A1 McCann, Emma A1 Yosifova, Dragana A1 Jarvis, Joanna A1 Kruer, Michael C A1 Marks, Warren A1 Campbell, Jonathan A1 Allen, Louise E A1 Gustincich, Stefano A1 Raymond, F Lucy A1 Tartaglia, Marco A1 Reid, Evan PB Elsevier BV; http://dx.doi.org/10.1016/j.ajhg.2020.10.012; Am J Hum Genet YR 2020 K1 CIMDAG K1 DNA damage K1 centrosome K1 cerebellar hypoplasia K1 endosomal sorting K1 endosomal sorting complex required for transport K1 microcephaly K1 mitosis K1 nuclear envelope K1 primary cilium K1 ATPases Associated with Diverse Cellular Activities K1 Alleles K1 Animals K1 Brain K1 Cell Cycle K1 Endosomal Sorting Complexes Required for Transport K1 Endosomes K1 Fibroblasts K1 Genomics K1 HEK293 Cells K1 HeLa Cells K1 Humans K1 Mice K1 Mutation K1 Missense K1 Neurodevelopmental Disorders K1 Neurons K1 Protein Domains K1 Protein Transport K1 Spindle Apparatus K1 Vacuolar Proton-Translocating ATPases JF https://www.repository.cam.ac.uk/handle/1810/312247 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/312247 DO https://www.repository.cam.ac.uk/handle/1810/312247 SF ELIB - SuUB Bremen
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