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1 Ergebnisse
1
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Reco..:
Muir, Alison M
;
Cohen, Jennifer L
;
Sheppard, Sarah E
...
https://research.rug.nl/en/publications/741ac0be-6d46-4f4e-a1c7-687166d5d5d5. , 2020
Link:
https://hdl.handle.net/11370/741ac0be-6d46-4f4e-a1c7-6..
RT Journal T1
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_741ac0be-6d46-4f4e-a1c7-687166d5d5d5&Exemplar=1&LAN=DE A1 Muir, Alison M A1 Cohen, Jennifer L A1 Sheppard, Sarah E A1 Guttipatti, Pavithran A1 Lo, Tsz Y A1 Weed, Natalie A1 Doherty, Dan A1 DeMarzo, Danielle A1 Fagerberg, Christina R A1 Kjærsgaard, Lars A1 Larsen, Martin J A1 Rump, Patrick A1 Löhner, Katharina A1 Hirsch, Yoel A1 Zeevi, David A A1 Zackai, Elaine H A1 Bhoj, Elizabeth A1 Song, Yuanquan A1 Mefford, Heather C YR 2020 K1 NUCLEAR-PORE K1 DROSOPHILA K1 MUTATIONS K1 MECHANISMS K1 GENES JF https://research.rug.nl/en/publications/741ac0be-6d46-4f4e-a1c7-687166d5d5d5 LK http://dx.doi.org/https://hdl.handle.net/11370/741ac0be-6d46-4f4e-a1c7-687166d5d5d5 DO https://hdl.handle.net/11370/741ac0be-6d46-4f4e-a1c7-687166d5d5d5 SF ELIB - SuUB Bremen
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