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José María Carbonell-Pérez
José María Carbonell-Pérez
University of Extremadura
Genetics
Biology
Phenotype
Locus (genetics)
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3
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19
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Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
2021
European Journal of Medical Genetics
Samuel Bonilla-Fornés
Lourdes Galán-Ledesma
Pilar Méndez Pérez
Silvia Modamio-Høybjør
José María Carbonell-Pérez
Manuel Parrón Pajares
Karen E. Heath
Enrique Galán-Gómez
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Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.
2008
American Journal of Medical Genetics Part A
Luis J. Fernández
Pablo Lapunzina
Isidora López-Pajares
María Palomares
Isabel Martínez
Blanca Marín Fernández
José Quero
Luis García-Guereta
Alfredo García-Alix
Margarita Burgueros
Enrique Galán-Gómez
José María Carbonell-Pérez
Ángeles Pérez Granero
Laura Torres-Juan
Damià Heine-Suñer
Jordi Rosell
Alicia Delicado
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A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?
2004
American Journal of Medical Genetics Part A
Enrique Galán-Gómez
José María Carbonell-Pérez
Juan J. Cardesa-García
José M. Val-Sánchez de León
Francisco M. Campo-Sampedro
María Luisa Martínez-Frías
Jaime L. Frías
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Citations (6)
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