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Exome sequencing identifies DYNC2H1 mutations as a common c..:

Schmidts, M ; Arts, H.H ; Bongers, E.M...
info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2012-101284. , 2013

Link: https://serval.unil.ch/notice/serval:BIB_541F311E8BA7

RT Journal
T1 <Title>Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftunivlausanne:oai:serval.unil.ch:BIB_541F311E8BA7&Exemplar=1&LAN=DE
				
A1 Schmidts, M
A1 Arts, H.H
A1 Bongers, E.M
A1 Yap, Z
A1 Oud, M.M
A1 Antony, D
A1 Duijkers, L
A1 Emes, R.D
A1 Stalker, J
A1 Yntema, J.B
A1 Plagnol, V
A1 Hoischen, A
A1 Gilissen, C
A1 Forsythe, E
A1 Lausch, E
A1 Veltman, J.A
A1 Roeleveld, N
A1 Superti-Furga, A
A1 Kutkowska-Kazmierczak, A
A1 Kamsteeg, E.J
A1 Elçioglu, N
A1 van Maarle, M.C
A1 Graul-Neumann, L.M
A1 Devriendt, K
A1 Smithson, S.F
A1 Wellesley, D
A1 Verbeek, N.E
A1 Hennekam, R.C
A1 Kayserili, H
A1 Scambler, P.J
A1 Beales, P.L
A1 UK10K
A1 Knoers, N.V
A1 Roepman, R
A1 Mitchison, H.M
YR 2013
JF info:eu-repo/semantics/altIdentifier/doi/10.1136/jmedgenet-2012-101284
LK http://dx.doi.org/https://serval.unil.ch/notice/serval:BIB_541F311E8BA7
DO https://serval.unil.ch/notice/serval:BIB_541F311E8BA7
SF ELIB - SuUB Bremen

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