User profiles for "author:Simone M Karam"
Simone M KaramFaculdade de Medicina - FURG Verified email at furg.br Cited by 453 |
The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta …
KY Sanchez-Luquez, MX Carpena, SM Karam… - … Research/Reviews in …, 2022 - Elsevier
Whole-exome sequencing (WES) is useful for molecular diagnosis, family genetic
counseling, and prognosis of intellectual disability (ID). However, ID molecular diagnosis …
counseling, and prognosis of intellectual disability (ID). However, ID molecular diagnosis …
Genetic causes of intellectual disability in a birth cohort: A population‐based study
Intellectual disability affects approximately 1–3% of the population and can be caused by
genetic and environmental factors. Although many studies have investigated the etiology of …
genetic and environmental factors. Although many studies have investigated the etiology of …
[HTML][HTML] Intellectual disability in a birth cohort: prevalence, etiology, and determinants at the age of 4 years
Background: Intellectual disability (ID), characterized by impairments in intellectual function
and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology …
and adaptive behavior, affects 1-3% of the population. Many studies investigated its etiology …
The D-score: a metric for interpreting the early development of infants and toddlers across global settings
Introduction Early childhood development can be described by an underlying latent
construct. Global comparisons of children's development are hindered by the lack of a …
construct. Global comparisons of children's development are hindered by the lack of a …
Evaluation of genomic factors and early childhood stimulation on intelligence in children from a Brazilian birth cohort: The primary role of independent factors
KY Sánchez-Luquez, MX Carpena, SM Karam… - Progress in Neuro …, 2024 - Elsevier
Background Childhood cognitive abilities are a predictor of health outcomes and adult
income potential. Identifying factors associated with childhood intelligence and their …
income potential. Identifying factors associated with childhood intelligence and their …
[HTML][HTML] Cockayne syndrome: Report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism,
growth deficiency, neurological deterioration, skin photosensitivity and a characteristic …
growth deficiency, neurological deterioration, skin photosensitivity and a characteristic …
[HTML][HTML] Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil
CR Vargas, AG Barschak, DM Coelho… - … and Molecular Biology, 2000 - SciELO Brasil
X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal
metabolism biochemically characterized by the accumulation of very long chain fatty acids …
metabolism biochemically characterized by the accumulation of very long chain fatty acids …
CHILD DEVELOPMENT AND BEHAVIOR: A PEDIATRIC PERCEPTION
R Halpern, SM Karam, EF Mullinary… - Revista Brasileira de …, 2020 - SciELO Brasil
Foram entrevistados os pediatras que exerciam clínica na cidade de Pelotas, RS. Em 1994,
o conhecimento sobre questões relativas ao desenvolvimento e comportamento infantil e …
o conhecimento sobre questões relativas ao desenvolvimento e comportamento infantil e …
[HTML][HTML] Desenvolvimento e comportamento infantil: uma visão dos pediatras
Foram entrevistados os pediatras que exerciam clínica na cidade de Pelotas, RS. Em 1994,
o conhecimento sobre questões relativas ao desenvolvimento e comportamento infantil e …
o conhecimento sobre questões relativas ao desenvolvimento e comportamento infantil e …