Results 91 to 100 of about 236,029 (259)
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]
, 2019 Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila +11 more
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Annals of Neurology, EarlyView.SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge +11 more
wiley +1 more source
Gender, socio-economic status and metabolic syndrome in middle-aged and old adults. [PDF]
, 2008 BACKGROUND: Studies that addressed social and economic determinants of cardiovascular diseases, consistently showed an increase prevalence of the individual features of metabolic syndrome in the lower socio-economic strata.
Barros, Henrique +2 more
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British Educational Research Journal, EarlyView.Abstract This study explores the multifaceted dynamics of student sentiment towards artificial intelligence (AI)‐based education by integrating sentiment analysis techniques with statistical methods, including Monte Carlo simulations and decision tree modelling, alongside qualitative grounded theory analysis.
Volkan Duran +2 more
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background Longitudinal skeletal growth takes place in the cartilaginous growth plates. While growth plates are found at either end of conventional long bones, they occur at a variety of locations in the mammalian skeleton. For example, the metacarpals and metatarsals (MT) in the hands and feet form only a single growth plate at one end, and ...
Philip L. Reno +4 more
wiley +1 more source
Developmental Dynamics, EarlyView.Abstract Background Mutations in cohesins cause cohesinopathies such as Cornelia de Lange Syndrome (CdLS) and Roberts Syndrome (RBS). Prior findings demonstrate that Esco2 (a cohesin activator) and Smc3 (a core cohesin subunit) regulate the CRL4 E3 ubiquitin ligase. SMC3 mutations, however, account for a small percentage of CdLS.
Annie C. Sanchez +4 more
wiley +1 more source
An etiologic evaluation of children with short stature in Gorgan (Northeast Iran), 2005
, 2007 Growth is an important biological process during childhood. Short stature is the most common cause of a child to be examined by an endocrinologist. This cross-sectional study was performed to determine the short stature causes in children aged 6-14 years
Khoddam, H., Mohammadian, S.
core
hrGH treatment of glucocorticoid-induced short stature in children [PDF]
O uso crônico de glicocorticóides no tratamento de doenças sistêmicas causa diminuição da velocidade de crescimento (VC), podendo acarretar perda estatural final.
MARTINELLI JR, Carlos Eduardo +1 more
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Developmental Dynamics, EarlyView.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
Simple anthropometric and physical performance tests to predict maximal box-lifting ability [PDF]
, 2007 Box-lifting ability is an important characteristic of military personnel. The purpose of this paper was to determine the usefulness of the upright row free weight exercise, and simple anthropometric tests, to predict maximal box-lifting performance that ...
Wilkinson, Mick, Williams, Alun
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