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A case of terminal long arm deletion of chromosome 6
(1990-10-02)
A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck ...
A case of terminal long arm deletion of chromosome 6
(1990-10-02)
A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck ...
Beneficios de la estimulación temprana en el área psicomotriz en niños comprendidos de 0-3 años diagnosticados con retardo mental leve.
(Quito: UCE, 2012)
Trabajo de titulación sobre Psicología Infantil y Psicorrehabilitación, Retraso, Mental y Prevención, específicamente Estimulación Precoz. El objetivo es mejorar el dominio del área psicomotriz, la relación y comunicación ...
Control of psychomotor agitation and aggressive behavior in patients with autistic disorder: a retrospective chart review
(Associação Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange, 2008)
Objective: To evaluate the efficacy of pharmacotherapy on the symptoms of psychomotor agitation and aggressive behavior in a sample of patients with autistic spectrum disorder. Method: The charts of all patients with a ...
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
(2004)
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine ...
Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine
(2007)
Context: T-3 action in neurons is essential for brain development. Recent evidence indicates that monocarboxylate transporter 8 (MCT8) is important for neuronal T-3 uptake. Hemizygous mutations have been identified in the ...
Language, behavior and neurodevelopment in Joubert syndrome: A case report
(2016-01-01)
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, ...