Results 81 to 90 of about 58,711,238 (132)

Programa de autonomía joven

, 1990
Existe otro vídeo en catalánLos jóvenes con síndrome de Down deben tener una vida como los jovenes de su edad pero para ello hay que saber escucharlos.

core  

Outcome strategies for clinical trials in Neuropaediatric rare diseases. [PDF]

Neurosci Appl
Acosta MT, Aibar JÁ, Arango C, Cirauqui EA, Baeza C, Berry-Kravis E, Bishop KI, Busner J, Chapman C, Chaumette B, Del Cerro I, Diaz JC, Dorffner G, Edgar CJ, Giorgi S, Hölter SM, Kittel-Schneider S, Latzman RD, Moreno C, Pallanti S, Colzi C, Plasencia C, Radtke F, Rockwood K, Santuccione Chadha A, Sevinc G, Singh MK, Smith SH, Tandon PK, Tinoco D, Broggi E, Morgan SF, Magaraggia I, Zaragoza Domingo S.   +33 more
europepmc   +1 more source

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

Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis. [PDF]

Front Genet
Brito F, Lagos C, Cubillos J, Orellana J, Gajardo M, Böhme D, Encina G, Repetto GM.   +7 more
europepmc   +1 more source

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. [PDF]

J Clin Invest, 2015
Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y.   +7 more
europepmc   +1 more source

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. [PDF]

Dialogues Clin Neurosci, 2017
Fernandez BA, Scherer SW.
europepmc   +1 more source

Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome. [PDF]

Microorganisms
Alba C, Herranz C, Monroy MA, Aragón A, Jurado R, Díaz-Regañón D, Sánchez C, Tolín M, Miranda C, Gómez-Taylor B, Sempere F, Álvarez-Calatayud G, Rodríguez JM.   +12 more
europepmc   +1 more source

[Anesthetic management of a patient with 15q tetrasomy for dental treatment]. [PDF]

Braz J Anesthesiol, 2018
Hase Y, Kemekura N, Nitta Y, Fujisawa T.
europepmc   +1 more source