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1 Ergebnisse
1
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
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
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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