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Angeles García-Cazorla
Angeles García-Cazorla
Hospital Sant Joan de Déu Barcelona
Biology
X-inactivation
Genetics
Mutant
Genetic linkage
2
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105
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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
2017
Journal of Inherited Metabolic Disease
Martina Huemer
Daria Diodato
Bernd C. Schwahn
Manuel Schiff
Anabela Bandeira
Jean-François Benoist
Alberto Burlina
Roberto Cerone
María L. Couce
Angeles García-Cazorla
Giancarlo la Marca
Elisabetta Pasquini
Laura Vilarinho
James D. Weisfeld-Adams
Viktor Kožich
Henk J. Blom
Matthias R. Baumgartner
Carlo Dionisi Vici
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Citations (93)
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
2010
European Journal of Human Genetics
Judit García-Villoria
Laura Gort
Irene Madrigal
Carme Fons
Cristina Fernández
Aleix Navarro-Sastre
Montserrat Milà
Paz Briones
Angeles García-Cazorla
Jaume Campistol
Antonia Ribes
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Citations (12)
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