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KIAA1109 Variants Are Associated with a Severe Disorder of ..:
Gueneau, L
;
Fish, R.J
;
Shamseldin, H.E
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.12.002. , 2018
Link:
https://serval.unil.ch/notice/serval:BIB_D335250BB897
RT Journal T1
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
UL https://suche.suub.uni-bremen.de/peid=base-ftunivlausanne:oai:serval.unil.ch:BIB_D335250BB897&Exemplar=1&LAN=DE A1 Gueneau, L A1 Fish, R.J A1 Shamseldin, H.E A1 Voisin, N A1 Tran Mau-Them, F A1 Preiksaitiene, E A1 Monroe, G.R A1 Lai, A A1 Putoux, A A1 Allias, F A1 Ambusaidi, Q A1 Ambrozaityte, L A1 Cimbalistienė, L A1 Delafontaine, J A1 Guex, N A1 Hashem, M A1 Kurdi, W A1 Jamuar, S.S A1 Ying, L.J A1 Bonnard, C A1 Pippucci, T A1 Pradervand, S A1 Roechert, B A1 van Hasselt, P.M A1 Wiederkehr, M A1 Wright, C.F A1 Xenarios, I A1 van Haaften, G A1 Shaw-Smith, C A1 Schindewolf, E.M A1 Neerman-Arbez, M A1 Sanlaville, D A1 Lesca, G A1 Guibaud, L A1 Reversade, B A1 Chelly, J A1 Kučinskas, V A1 Alkuraya, F.S A1 Reymond, A YR 2018 K1 Adolescent K1 Animals K1 Arthrogryposis/genetics K1 Brain/diagnostic imaging K1 Brain/embryology K1 Brain/pathology K1 Child K1 Female K1 Gene Knockdown Techniques K1 Humans K1 Infant K1 Newborn K1 Magnetic Resonance Imaging K1 Male K1 Mutation/genetics K1 Pedigree K1 Proteins/genetics K1 Zebrafish K1 Zebrafish Proteins/genetics K1 arthrogryposis K1 brain malformations K1 cerebellar hypoplasia K1 clubfoot K1 hydrocephaly K1 whole-exome sequencing JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2017.12.002 LK http://dx.doi.org/https://serval.unil.ch/notice/serval:BIB_D335250BB897 DO https://serval.unil.ch/notice/serval:BIB_D335250BB897 SF ELIB - SuUB Bremen
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