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Pseudouridylation defect due to DKC1 and NOP10 mutations ca..:

Balogh, E ; Chandler, J ; Varga, M...
https://discovery.ucl.ac.uk/id/eprint/10098892/1/Chandler_Combined%20manuscript_final_28.4.20.pdf. , 2020

Link: https://discovery.ucl.ac.uk/id/eprint/10098892/1/Chand..

RT Journal
T1 <Title>Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10098892&Exemplar=1&LAN=DE
				
A1 Balogh, E
A1 Chandler, J
A1 Varga, M
A1 Tahoun, M
A1 Menyhárd, DK
A1 Schay, G
A1 Goncalves, T
A1 Hamar, R
A1 Légrádi, R
A1 Szekeres, Á
A1 Gribouval, O
A1 Kleta, R
A1 Stanescu, H
A1 Bockenhauer, D
A1 Kerti, A
A1 Williams, H
A1 Kinsler, V
A1 Di, W-L
A1 Curtis, D
A1 Kolatsi-Joannou, M
A1 Hammid, H
A1 Szőcs, A
A1 Perczel, K
A1 Maka, E
A1 Toldi, G
A1 Sava, F
A1 Arrondel, C
A1 Kardos, M
A1 Fintha, A
A1 Hossain, A
A1 D'Arco, F
A1 Kaliakatsos, M
A1 Koeglmeier, J
A1 Mifsud, W
A1 Moosajee, M
A1 Faro, A
A1 Jávorszky, E
A1 Rudas, G
A1 Saied, MH
A1 Marzouk, S
A1 Kelen, K
A1 Götze, J
A1 Reusz, G
A1 Tulassay, T
A1 Dragon, F
A1 Mollet, G
A1 Motameny, S
A1 Thiele, H
A1 Dorval, G
A1 Nürnberg, P
A1 Perczel, A
A1 Szabó, AJ
A1 Long, DA
A1 Tomita, K
A1 Antignac, C
A1 Waters, AM
A1 Tory, K
PB National Academy of Sciences
YR 2020
K1 pseudouridylation
K1 H/ACA snoRNP
K1 pediatrics
K1 telomere
K1 rRNA
JF https://discovery.ucl.ac.uk/id/eprint/10098892/1/Chandler_Combined%20manuscript_final_28.4.20.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10098892/1/Chandler_Combined%20manuscript_final_28.4.20.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10098892/1/Chandler_Combined%20manuscript_final_28.4.20.pdf
SF ELIB - SuUB Bremen

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