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Author/Creator Obón, María

1. Front Cover. Issue 4 (11th March 2020)

Authors:
Pascual‐Alonso, Ainhoa; Blasco, Laura; Vidal, Silvia; Gean, Esther; Rubio, Patricia; O'Callaghan, Mar; Martínez‐Monseny, Antonio F.; Castells, Alba Aina; Xiol, Clara; Català, Vicenç; Brandi, Nuria; Pacheco, Paola; Ros, Carlota; del Campo, Miguel; Guillén, Encarna; Ibañez, Salva; Sánchez, María J....
Journal:
Clinical genetics
Issue:
Volume 97:Issue 4(2020)
Page Start:
i
Record Type:
Journal Article
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2. GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms. Issue 2 (2nd December 2020)

Authors:
Mademont‐Soler, Irene; Casellas‐Vidal, Dolors; Trujillo, Alberto; Espuña‐Capote, Núria; Maroto, Anna; García‐González, Maria del Mar; Ruiz, María Dolores; Diego‐Álvarez, Dan; Queralt, Xavier; Perapoch, Josep; Obón, María
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 2(2021)
Page Start:
476
Record Type:
Journal Article
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3. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). (20th November 2018)

Authors:
Genis, David; Ortega-Cubero, Sara; San Nicolás, Hector; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; López, Eva; Campos, Berta; Lorenzo, Elena; Tonda, Raúl; Beltran, Sergi; Negre, Montserrat; Obón, María; Beltran, Brigitte; Fàbregas, Laura; Alemany, Berta; Márquez, Fabián; Ramió-Torrentà, Ll...
Journal:
Neurology
Issue:
Volume 91:Number 21(2018)
Page Start:
Record Type:
Journal Article
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4. Molecular characterization of Spanish patients with MECP2 duplication syndrome. Issue 4 (23rd February 2020)

Authors:
Pascual‐Alonso, Ainhoa; Blasco, Laura; Vidal, Silvia; Gean, Esther; Rubio, Patricia; O'Callaghan, Mar; Martínez‐Monseny, Antonio F.; Castells, Alba Aina; Xiol, Clara; Català, Vicenç; Brandi, Nuria; Pacheco, Paola; Ros, Carlota; del Campo, Miguel; Guillén, Encarna; Ibañez, Salva; Sánchez, María J....
Journal:
Clinical genetics
Issue:
Volume 97:Issue 4(2020)
Page Start:
610
Record Type:
Journal Article
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5. ZDHHC15 as a candidate gene for autism spectrum disorder. Issue 4 (23rd December 2022)

Authors:
Casellas‐Vidal, Dolors; Mademont‐Soler, Irene; Sánchez, Joana; Plaja, Alberto; Castells, Neus; Camós, Maria; Nieto‐Moragas, Javier; del Mar García, Maria; Rodriguez‐Solera, Celia; Rivera, Helena; Brunet, Joan; Álvarez, Sara; Perapoch, Josep; Queralt, Xavier; Obón, María
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
941
Record Type:
Journal Article
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