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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause N..:

Manole, A ; Efthymiou, S ; O'Connor, E...
https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf. , 2020

Link: https://discovery.ucl.ac.uk/id/eprint/10107091/7/Hould..

RT Journal
T1 <Title>De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10107091&Exemplar=1&LAN=DE
				
A1 Manole, A
A1 Efthymiou, S
A1 O'Connor, E
A1 Mendes, MI
A1 Jennings, M
A1 Maroofian, R
A1 Davagnanam, I
A1 Mankad, K
A1 Lopez, MR
A1 Salpietro, V
A1 Harripaul, R
A1 Badalato, L
A1 Walia, J
A1 Francklyn, CS
A1 Athanasiou-Fragkouli, A
A1 Sullivan, R
A1 Desai, S
A1 Baranano, K
A1 Zafar, F
A1 Rana, N
A1 Ilyas, M
A1 Horga, A
A1 Kara, M
A1 Mattioli, F
A1 Goldenberg, A
A1 Griffin, H
A1 Piton, A
A1 Henderson, LB
A1 Kara, B
A1 Aslanger, AD
A1 Raaphorst, J
A1 Pfundt, R
A1 Portier, R
A1 Shinawi, M
A1 Kirby, A
A1 Christensen, KM
A1 Wang, L
A1 Rosti, RO
A1 Paracha, SA
A1 Sarwar, MT
A1 Jenkins, D
A1 SYNAPS Study Group
A1 Ahmed, J
A1 Santoni, FA
A1 Ranza, E
A1 Iwaszkiewicz, J
A1 Cytrynbaum, C
A1 Weksberg, R
A1 Wentzensen, IM
A1 Guillen Sacoto, MJ
A1 Si, Y
A1 Telegrafi, A
A1 Andrews, MV
A1 Baldridge, D
A1 Gabriel, H
A1 Mohr, J
A1 Oehl-Jaschkowitz, B
A1 Debard, S
A1 Senger, B
A1 Fischer, F
A1 van Ravenwaaij, C
A1 Fock, AJM
A1 Stevens, SJC
A1 Bähler, J
A1 Nasar, A
A1 Mantovani, JF
A1 Manzur, A
A1 Sarkozy, A
A1 Smith, DEC
A1 Salomons, GS
A1 Ahmed, ZM
A1 Riazuddin, S
A1 Usmani, MA
A1 Seibt, A
A1 Ansar, M
A1 Antonarakis, SE
A1 Vincent, JB
A1 Ayub, M
A1 Grimmel, M
A1 Jelsig, AM
A1 Hjortshøj, TD
A1 Karstensen, HG
A1 Hummel, M
A1 Haack, TB
A1 Jamshidi, Y
A1 Distelmaier, F
A1 Horvath, R
A1 Gleeson, JG
A1 Becker, H
A1 Mandel, J-L
A1 Koolen, DA
A1 Houlden, H
YR 2020
K1 aminoacyl-tRNA synthetase
K1 developmental delay
K1 epilepsy
K1 neurodevelopment
K1 neuropathy
K1 next generation sequencing
JF https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10107091/7/Houlden_De%20Novo%20and%20Bi-allelic%20Pathogenic%20Variants%20in%20NARS1%20Cause%20Neurodevelopmental%20Delay%20Due%20to%20Toxic%20Gain-of-Function%20and%20Partial%20Loss-of-Function%20Effects_VoR.pdf
SF ELIB - SuUB Bremen

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