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Optimized testing strategy for the diagnosis of GAA-FGF14 a..:

Bonnet, Céline ; Pellerin, David ; Weber, Frédéric...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-023-36654-8. , 2023

Link: https://pub.dzne.de/record/258667

RT Journal
T1 <Title>Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftdznevdb:oai:pub.dzne.de:258667&Exemplar=1&LAN=DE
				
A1 Bonnet, Céline
A1 Pellerin, David
A1 Weber, Frédéric
A1 Girardier, Florent
A1 Robin, Clément
A1 Cacciatore, Stéphanie
A1 Bronner, Myriam
A1 Pourié, Carine
A1 Dreumont, Natacha
A1 Puisieux, Salomé
A1 Iruzubieta, Pablo
A1 Dicaire, Marie-Josée
A1 Roth, Virginie
A1 Evoy, François
A1 Rioux, Marie-France
A1 Hocquel, Armand
A1 La Piana, Roberta
A1 Synofzik, Matthis
A1 Houlden, Henry
A1 Danzi, Matt C
A1 Zuchner, Stephan
A1 Brais, Bernard
A1 Renaud, Mathilde
A1 Clément, Guillemette
A1 Wandzel, Marion
A1 Lambert, Laëtitia
A1 Frismand, Solène
A1 Douarinou, Marian
A1 Grosset, Anais
A1 Bekkour, Ines
PB Macmillan Publishers Limited, part of Springer Nature
YR 2023
K1 info:eu-repo/classification/ddc/600
K1 Humans
K1 Friedreich Ataxia: genetics
K1 Canada
K1 Spinocerebellar Ataxias: genetics
K1 Trinucleotide Repeat Expansion
K1 fibroblast growth factor 14
JF info:eu-repo/semantics/altIdentifier/doi/10.1038/s41598-023-36654-8
LK http://dx.doi.org/https://pub.dzne.de/record/258667
DO https://pub.dzne.de/record/258667
SF ELIB - SuUB Bremen

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