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1 Ergebnisse
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Biallelic variants in KIF14 cause intellectual disability w..:
Makrythanasis, P
;
Maroofian, R
;
Stray-Pedersen, A
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-017-0088-9. , 2018
Link:
https://serval.unil.ch/notice/serval:BIB_C00D344B1BA2
RT Journal T1
Biallelic variants in KIF14 cause intellectual disability with microcephaly
UL https://suche.suub.uni-bremen.de/peid=base-ftunivlausanne:oai:serval.unil.ch:BIB_C00D344B1BA2&Exemplar=1&LAN=DE A1 Makrythanasis, P A1 Maroofian, R A1 Stray-Pedersen, A A1 Musaev, D A1 Zaki, M.S A1 Mahmoud, I.G A1 Selim, L A1 Elbadawy, A A1 Jhangiani, S.N A1 Coban Akdemir, Z.H A1 Gambin, T A1 Sorte, H.S A1 Heiberg, A A1 McEvoy-Venneri, J A1 James, K.N A1 Stanley, V A1 Belandres, D A1 Guipponi, M A1 Santoni, F.A A1 Ahangari, N A1 Tara, F A1 Doosti, M A1 Iwaszkiewicz, J A1 Zoete, V A1 Backe, P.H A1 Hamamy, H A1 Gleeson, J.G A1 Lupski, J.R A1 Karimiani, E.G A1 Antonarakis, S.E YR 2018 K1 Child K1 Preschool K1 Female K1 Humans K1 Intellectual Disability/genetics K1 Intellectual Disability/pathology K1 Kinesin/chemistry K1 Kinesin/genetics K1 Kinesin/metabolism K1 Loss of Function Mutation K1 Microcephaly/genetics K1 Microcephaly/pathology K1 Mutation K1 Missense K1 Oncogene Proteins/chemistry K1 Oncogene Proteins/genetics K1 Oncogene Proteins/metabolism K1 Pedigree K1 Phenotype K1 Protein Domains K1 Syndrome JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-017-0088-9 LK http://dx.doi.org/https://serval.unil.ch/notice/serval:BIB_C00D344B1BA2 DO https://serval.unil.ch/notice/serval:BIB_C00D344B1BA2 SF ELIB - SuUB Bremen
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