المؤلفون: Victor Martinez-Glez, Jair Tenorio, Elena Vallespín, Gema Gordo, Sixto García-Miñaur, Pablo Lapunzina, Fernando Santos-Simarro, Eva Barroso, R.de Mena, Kristina Ibáñez, Pedro Arias, L. Rodriguez-Laguna, J. C. Silla, M. Palomares-Bralo, I. Dapia, Victor L. Ruiz-Perez, José Moreno, Julián Nevado, A. del Pozo

المساهمون: UAM. Departamento de Pediatría, Instituto de Investigaciones Biomédicas 'Alberto Sols' (IIBM), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: Biblos-e Archivo: Repositorio Institucional de la UAM
Universidad Autónoma de Madrid
Biblos-e Archivo. Repositorio Institucional de la UAM
instname

مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Class I Phosphatidylinositol 3-Kinases, Medicina, Developmental Disabilities, Biology, Germline, Tuberous Sclerosis Complex 1 Protein, 03 medical and health sciences, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Constitutive mosaicism, Intellectual Disability, Tuberous Sclerosis Complex 2 Protein, Gonadal mosaicism, Genetics, medicine, Humans, Macrocephaly, Megalencephaly, Child, Genetics (clinical), PI3K/AKT/mTOR pathway, Germline mosaicism, Cell Proliferation, Smith-Kingsmore syndrome, Neuronal Plasticity, TOR Serine-Threonine Kinases, Brain, medicine.disease, Somatic mosaicism, Smith-Lemli-Opitz Syndrome, 030104 developmental biology, medicine.anatomical_structure, Mutation, mTOR, Female, TSC1, medicine.symptom, TSC2, Proto-Oncogene Proteins c-akt, 030217 neurology & neurosurgery, MINDS syndrome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7497a8b74067c57826947522a22dd3a3
http://hdl.handle.net/10486/681672

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