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Reanalysis
(1)
Phenotype [MeSH]
(1)
Original Communication
(1)
Next-generation sequencing
(1)
Neuromuscular disease
(1)
Neuromuscular Diseases/diagnosis [MeSH]
(1)
Muscular Diseases/genetics [MeSH]
(1)
Male [MeSH]
(1)
Humans [MeSH]
(1)
High-Throughput Nucleotide Sequencing [MeSH]
(1)
Publikationstyp
Artikel
(2)
Medium
Erscheinungsjahr
2024
(1)
2023
(1)
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2 Treffer
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Typ
Operations
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis
2024 .
Esteller, Diana
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Schiava, Marianela
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Verdú-Díaz, José
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Villar-Quiles, Rocío-Nur
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Dibowski, Boris
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Venturelli, Nadia
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Laforet, Pascal
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Alonso-Pérez, Jorge
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Olive, Montse
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Domínguez-González, Cristina
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Paradas, Carmen
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Vélez, Beatriz
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Kostera-Pruszczyk, Anna
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Kierdaszuk, Biruta
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Rodolico, Carmelo
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Claeys, Kristl
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Pál, Endre
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Malfatti, Edoardo
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Souvannanorath, Sarah
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Alonso-Jiménez, Alicia
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de Ridder, Willem
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De Smet, Eline
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Papadimas, George
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Papadopoulos, Constantinos
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Xirou, Sofia
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Luo, Sushan
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Muelas, Nuria
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Vilchez, Juan J.
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Ramos-Fransi, Alba
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Monforte, Mauro
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Tasca, Giorgio
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Udd, Bjarne
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Palmio, Johanna
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Sri, Srtuhi
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Krause, Sabine
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Schoser, Benedikt
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Fernández-Torrón, Roberto
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López de Munain, Adolfo
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Pegoraro, Elena
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Farrugia, Maria Elena
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Vorgerd, Mathias
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Manousakis, Georgious
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Chanson, Jean Baptiste
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Nadaj-Pakleza, Aleksandra
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Cetin, Hakan
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Badrising, Umesh
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Warman-Chardon, Jodi
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Bevilacqua, Jorge
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Earle, Nicholas
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Campero, Mario
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Díaz, Jorge
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Ikenaga, Chiseko
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Lloyd, Thomas E.
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Nishino, Ichizo
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Nishimori, Yukako
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Saito, Yoshihiko
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Oya, Yasushi
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Takahashi, Yoshiaki
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Nishikawa, Atsuko
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Sasaki, Ryo
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Marini-Bettolo, Chiara
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Guglieri, Michela
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Straub, Volker
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Stojkovic, Tanya
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Carlier, Robert Y.
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Diaz-Manera, Jordi
2024
http://purl.org/ontology/bibo/Article
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
2023 .
Krenn, Martin
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Wagner, Matias
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Zulehner, Gudrun
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Weng, Rosa
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Jäger, Fiona
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Keritam, Omar
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Sener, Merve
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Brücke, Christof
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Milenkovic, Ivan
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Langer, Agnes
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Buchinger, Dominic
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Habersam, Richard
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Mayerhanser, Katharina
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Brugger, Melanie
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Brunet, Theresa
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Jacob, Maureen
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Graf, Elisabeth
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Berutti, Riccardo
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Cetin, Hakan
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Hoefele, Julia
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Winkelmann, Juliane
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Zimprich, Fritz
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Rath, Jakob
2023
http://purl.org/ontology/bibo/Article