Results 91 to 100 of about 637,269 (244)
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Reseña/Review (Espín, Manuel (Coord.) Adolescentes digitales. Revista Estudios de Juventud, Nº 92, INJUVE, Madrid, 2011) [PDF]
, 2011 Espín, Manuel (Coord.)(2011) Adolescentes Digitales. Revista Estudios de Juventud, Nº 92. Marzo 2011. INJUVE, Madrid."Adolescentes digitales" se nos muestra como una obra que pretende explorar desde distintos puntos de vista la realidad de la generación
Conde Melguizo, Rafael
core +1 more source
, 1975 "Lara, Fernando, 1947-" también ha firmado sus artículos como "Valle, Ramón"
openaire +1 more source
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
A interação entre ESF e Escola na saúde do adolescente. [PDF]
, 2015 O artigo consiste em um relato da interação entre a Estratégia de Saúde da Família (ESF) e a escola na promoção e prevenção de agravos à saúde dos adolescentes.
Donato, Lyvia Maria Torres Moura +3 more
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Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai +4 more
wiley +1 more source
A INFLUÊNCIA DE FATORES SOCIODEMOGRÁFICOS NA EXPRESSÃO DE COMPORTAMENTOS AUTOLESIVOS NÃO SUICIDÁRIOS (NSSI) EM ADOLESCENTES PORTUGUESES [PDF]
, 2017 A manifestação de comportamentos autolesivos não suicidários (NSSI) tem vindo a aumentar entre os adolescentes. Pretende-se com esta investigação identificar a frequência e os tipos de autodano praticados por adolescentes portugueses e analisar a ...
Barreira, Alexandra +2 more
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Revista Peruana de Ginecología y Obstetricia, 2015 Situación actual de la salud del adolescente en el Perú. Sexualidad en la adolescencia.
Rosario Del Solar Ponce +1 more
openaire +3 more sources
Dentofacial Malocclusion in Neurofibromatosis 1 in Finland
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold +6 more
wiley +1 more source