Titel

Merkliste
1 Ergebnisse

Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, EM ; Bakhtiari, S ; Marsh, APL...
https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf. , 2021

Link: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyr..

RT Journal
T1 <Title>Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10139869&Exemplar=1&LAN=DE
				
A1 Richard, EM
A1 Bakhtiari, S
A1 Marsh, APL
A1 Kaiyrzhanov, R
A1 Wagner, M
A1 Shetty, S
A1 Pagnozzi, A
A1 Nordlie, SM
A1 Guida, BS
A1 Cornejo, P
A1 Magee, H
A1 Liu, J
A1 Norton, BY
A1 Webster, R
A1 Worgan, L
A1 Hakonarson, H
A1 Li, J
A1 Guo, Y
A1 Jain, M
A1 Blesson, A
A1 Rodan, LH
A1 Abbott, M-A
A1 Comi, A
A1 Cohen, JS
A1 Alhaddad, B
A1 Meitinger, T
A1 Lenz, D
A1 Ziegler, A
A1 Kotzaeridou, U
A1 Brunet, T
A1 Chassevent, A
A1 Smith-Hicks, C
A1 Ekstein, J
A1 Weiden, T
A1 Hahn, A
A1 Zharkinbekova, N
A1 Turnpenny, P
A1 Tucci, A
A1 Yelton, M
A1 Horvath, R
A1 Gungor, S
A1 Hiz, S
A1 Oktay, Y
A1 Lochmuller, H
A1 Zollino, M
A1 Manuela, M
A1 Marangi, G
A1 Nigro, V
A1 Torella, A
A1 Pinelli, M
A1 Amenta, S
A1 Husain, RA
A1 Grossmann, B
A1 Rapp, M
A1 Steen, C
A1 Marquardt, I
A1 Grimmel, M
A1 Grasshoff, U
A1 Korenke, GC
A1 Owczarek-Lipska, M
A1 Neidhardt, J
A1 Radio, FC
A1 Mancini, C
A1 Sepulveda, DJC
A1 Mc Walter, K
A1 Begtrup, A
A1 Crunk, A
A1 Sacoto, MJG
A1 Person, R
A1 Schnur, RE
A1 Mancardi, MM
A1 Kreuder, F
A1 Striano, P
A1 Zara, F
A1 Chung, WK
A1 Marks, WA
A1 van Eyk, CL
A1 Webber, DL
A1 Corbett, MA
A1 Harper, K
A1 Berry, JG
A1 Mac Lennan, AH
A1 Gecz, J
A1 Tartaglia, M
A1 Salpietro, V
A1 Christodoulou, J
A1 Kaslin, J
A1 Padilla-Lopez, S
A1 Bilguvar, K
A1 Munchau, A
A1 Ahmed, ZM
A1 Hufnagel, RB
A1 Fahey, MC
A1 Maroofian, R
A1 Houlden, H
A1 Sticht, H
A1 Mane, SM
A1 LRad, A
A1 Vona, B
A1 Jin, SC
A1 Haack, TB
A1 Makowski, C
A1 Hirsch, Y
A1 Riazuddin, S
A1 Kruer, MC
PB CELL PRESS
YR 2021
K1 neurodevelopmental disorder
K1 movement disorder
K1 cerebral palsy
K1 epilepsy
K1 SPATA5L1
K1 intellectual disability
K1 AAA+ superfamily
K1 ATPase
K1 sensorineural hearing loss
JF https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf
SF ELIB - SuUB Bremen

Export

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