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1 Ergebnisse
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Phenotypic and genetic spectrum of ATP6V1A encephalopathy:a..:
Guerrini, R. (Renzo)
;
Mei, D. (Davide)
;
Kerti-Szigeti, K. (Katalin)
... , 2022
Link:
http://urn.fi/urn:nbn:fi-fe2023022728799
RT Journal T1
Phenotypic and genetic spectrum of ATP6V1A encephalopathy:a disorder of lysosomal homeostasis
UL https://suche.suub.uni-bremen.de/peid=base-ftunivoulu:oai:oulu.fi:nbnfi-fe2023022728799&Exemplar=1&LAN=DE A1 Guerrini, R. (Renzo) A1 Mei, D. (Davide) A1 Kerti-Szigeti, K. (Katalin) A1 Pepe, S. (Sara) A1 Koenig, M. K. (Mary Kay) A1 Von Allmen, G. (Gretchen) A1 Cho, M. T. (Megan T) A1 McDonald, K. (Kimberly) A1 Baker, J. (Janice) A1 Bhambhani, V. (Vikas) A1 Powis, Z. (Zöe) A1 Rodan, L. (Lance) A1 Nabbout, R. (Rima) A1 Barcia, G. (Giulia) A1 Rosenfeld, J. A. (Jill A) A1 Bacino, C. A. (Carlos A) A1 Mignot, C. (Cyril) A1 Power, L. H. (Lillian H) A1 Harris, C. J. (Catharine J) A1 Marjanovic, D. (Dragan) A1 Møller, R. S. (Rikke S) A1 Hammer, T. B. (Trine B) A1 T. D. (The DDD Study) A1 Keski Filppula, R. (Riikka) A1 Vieira, P. (Päivi) A1 Hildebrandt, C. (Clara) A1 Sacharow, S. (Stephanie) A1 U. D. (Undiagnosed Diseases Network) A1 Maragliano, L. (Luca) A1 Benfenati, F. (Fabio) A1 Lachlan, K. (Katherine) A1 Benneche, A. (Andreas) A1 Petit, F. (Florence) A1 de Sainte Agathe, J. M. (Jean Madeleine) A1 Hallinan, B. (Barbara) A1 Si, Y. (Yue) A1 Wentzensen, I. M. (Ingrid M) A1 Zou, F. (Fanggeng) A1 Narayanan, V. (Vinodh) A1 Matsumoto, N. (Naomichi) A1 Boncristiano, A. (Alessandra) A1 la Marca, G. (Giancarlo) A1 Kato, M. (Mitsuhiro) A1 Anderson, K. (Kristin) A1 Barba, C. (Carmen) A1 Sturiale, L. (Luisa) A1 Garozzo, D. (Domenico) A1 Bei, R. (Roberto) A1 A. c. (ATP6V1A collaborators) A1 Masuelli, L. (Laura) A1 Conti, V. (Valerio) A1 Novarino, G. (Gaia) A1 Fassio, A. (Anna) PB Oxford University Press YR 2022 K1 ATP6V1A K1 developmental delay K1 epileptic encephalopathy K1 lysosomal disorder K1 progressive brain atrophy LK http://urn.fi/urn:nbn:fi-fe2023022728799 DO http://urn.fi/urn:nbn:fi-fe2023022728799 SF ELIB - SuUB Bremen
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