Results 71 to 80 of about 1,264 (133)

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

Sci Rep
Duque A, Araujo L, Martinez-Romo J, Esteban-Vasallo MD, Domínguez-Berjón MF, Malillos Perez D.   +5 more
europepmc   +1 more source

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. [PDF]

BMC Med Genet, 2017
Aguilera C, Viñas-Jornet M, Baena N, Gabau E, Fernández C, Capdevila N, Cirkovic S, Sarajlija A, Miskovic M, Radivojevic D, Ruiz A, Guitart M.   +11 more
europepmc   +1 more source

El primer curs a l'escola d'una nena amb Síndrome d'Angelman [PDF]

, 1999
García Quevedo, Isabel
core  

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15. [PDF]

Hum Cell
Cazaux Mateus F, Camões Dos Santos J, Arez M, Bekman EP, da Rocha ST.   +4 more
europepmc   +1 more source

[Communication as a right: Current state of augmentative communication in healthcare]. [PDF]

Aten Primaria
Rossich-Verdés R, Muyo-Hernandez P, Cabanillas-Montferrer T, Rodríguez-Román B.   +3 more
europepmc   +1 more source

A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study). [PDF]

Orphanet J Rare Dis, 2018
Ruiz-Antoran B, Sancho-López A, Cazorla-Calleja R, López-Pájaro LF, Leiva Á, Iglesias-Escalera G, Marín-Serrano ME, Rincón-Ortega M, Lara-Herguedas J, Rossignoli-Palomeque T, Valiente-Rodríguez S, González-Marques J, Román-Riechmann E, Avendaño-Solá C.   +13 more
europepmc   +1 more source

Progresión de un astrocitoma a lo largo de la vía piramidal [PDF]

, 2002
Bejarano, B. (B.), Lazaro-Blazquez, D. (D.), Manrique, M. (Miguel), Riverol, M. (Mario)   +3 more
core  

MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables. [PDF]

Diagnostics (Basel)
Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García A, García-García O, O'Callaghan M, Pascual-Alonso A, Armstrong J, Mds Group, Martinez-Monseny AF.   +11 more
europepmc   +1 more source

From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study. [PDF]

PLoS One, 2016
Aghakhanyan G, Bonanni P, Randazzo G, Nappi S, Tessarotto F, De Martin L, Frijia F, De Marchi D, De Masi F, Kuppers B, Lombardo F, Caramella D, Montanaro D.   +12 more
europepmc   +1 more source

Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association. [PDF]

Ital J Pediatr
Russo S, Milani D, Meossi C, Marcucci L, Pajno R, Butti N, Cocchi G, Tannorella P, Bertoletti M, Carli D, Meazzini MC, Tortora C, Ferrari M, Zampino G, Massuras S, Ferrero GB, Quarello P, Rossetti G, Montirosso R, De Pellegrin M, Riccio A, Mussa A.   +21 more
europepmc   +1 more source