Titel

Merkliste
1 Ergebnisse

Bi-allelic genetic variants in the translational GTPases GT..:

Salpietro, V ; Maroofian, R ; Zaki, MS...
https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2.0-S0002929723004305-main.pdf. , 2023

Link: https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2...

RT Journal
T1 <Title>Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10184635&Exemplar=1&LAN=DE
				
A1 Salpietro, V
A1 Maroofian, R
A1 Zaki, MS
A1 Wangen, J
A1 Ciolfi, A
A1 Barresi, S
A1 Efthymiou, S
A1 Lamaze, A
A1 Aughey, GN
A1 Al Mutairi, F
A1 Rad, A
A1 Rocca, C
A1 Calì, E
A1 Accogli, A
A1 Zara, F
A1 Striano, P
A1 Mojarrad, M
A1 Tariq, H
A1 Giacopuzzi, E
A1 Taylor, JC
A1 Oprea, G
A1 Skrahina, V
A1 Rehman, KU
A1 Abd Elmaksoud, M
A1 Bassiony, M
A1 El Said, HG
A1 Abdel-Hamid, MS
A1 Al Shalan, M
A1 Seo, G
A1 Kim, S
A1 Lee, H
A1 Khang, R
A1 Issa, MY
A1 Elbendary, HM
A1 Rafat, K
A1 Marinakis, NM
A1 Traeger-Synodinos, J
A1 Ververi, A
A1 Sourmpi, M
A1 Eslahi, A
A1 Khadivi Zand, F
A1 Beiraghi Toosi, M
A1 Babaei, M
A1 Jackson, A
A1 Hannah, MG
A1 Bugiardini, E
A1 Bertini, E
A1 Kriouile, Y
A1 El-Khorassani, M
A1 Aguennouz, M
A1 Groppa, S
A1 Karashova, BM
A1 Goraya, JS
A1 Sultan, T
A1 Avdjieva, D
A1 Kathom, H
A1 Tincheva, R
A1 Banu, S
A1 Veggiotti, P
A1 Verrotti, A
A1 Lanari, M
A1 Savasta, S
A1 Macaya, A
A1 Garavaglia, B
A1 Borgione, E
A1 Papacostas, S
A1 Vikelis, M
A1 Chelban, V
A1 Kaiyrzhanov, R
A1 Cortese, A
A1 Sullivan, R
A1 Papanicolaou, EZ
A1 Dardiotis, E
A1 Maqbool, S
A1 Ibrahim, S
A1 Kirmani, S
A1 Rana, NN
A1 Atawneh, O
A1 Lim, SY
A1 Zuccotti, GV
A1 Marseglia, GL
A1 Esposito, S
A1 Shaikh, F
A1 Cogo, P
A1 Corsello, G
A1 Mangano, S
A1 Nardello, R
A1 Mangano, D
A1 Scardamaglia, A
A1 Koutsis, G
A1 Scuderi, C
A1 Ferrara, P
A1 Morello, G
A1 Zollo, M
A1 Berni-Canani, R
A1 Terracciano, LM
A1 Sisto, A
A1 Di Fabio, S
A1 Strano, F
A1 Scorrano, G
PB Elsevier BV
YR 2023
K1 GREND syndrome
K1 GTPBP1
K1 GTPBP2
K1 NBIA
K1 animal models
K1 ectodermal disorders
K1 neurodegeneration
K1 neurodevelopmental disorders
K1 ribosome stalling
K1 ribosomopathies
JF https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2.0-S0002929723004305-main.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2.0-S0002929723004305-main.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10184635/1/1-s2.0-S0002929723004305-main.pdf
SF ELIB - SuUB Bremen

Export

RefWorks (nur Desktop-Version!)
Flow (Zuerst in Flow einloggen, dann importieren)