HRS4R
Vull donar
Firma
MARIA OBON-FERRER
Posició
Investigador/a Post-doctoral – R2
Investigadors/es Post-doctorals – R2

Publicacions

Mauri S, Nieto-Moragas J, Obón M, Oriola J

The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene.

Jcem Case Reports, 2024, 2 dx.doi.org/10.1210/jcemcr/luad153
Casellas-Vidal D, Mademont-Soler I, Sánchez J, Plaja A, Castells N, Camós M, Nieto-Moragas J, Del Mar García M, Rodriguez-Solera C, Rivera H, Brunet J, Álvarez S, Perapoch J, Queralt X, Obón M

ZDHHC15 as a candidate gene for autism spectrum disorder.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191, 941-947 dx.doi.org/10.1002/ajmg.a.63099
Mademont-Soler I, Casellas-Vidal D, Trujillo A, Espuña-Capote N, MAROTO, A., García-González MDM, Ruiz MD, Diego-Álvarez D, Queralt X, Perapoch J, Obón M

GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185, 476-485 dx.doi.org/10.1002/ajmg.a.61996
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P

Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)

Neurology, 2018, 91, 1988-1998 dx.doi.org/10.1212/WNL.0000000000006550

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