Results 111 to 120 of about 4,480,801 (360)

Novel genetic cause of idiopathic short stature

open access: yesAnnals of Pediatric Endocrinology & Metabolism, 2017
Traditionally, the growth hormone – insulin-like growth factor I (GH – IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in
M. Kang
semanticscholar   +1 more source

Unveiling student sentiment dynamics toward AI‐based education through statistical analysis and Monte Carlo simulation

open access: yesBritish 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

An etiologic evaluation of children with short stature in Gorgan (Northeast Iran), 2005

open access: yes, 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  

Gene‐Specific Growth Charts for ASXL3‐Related Disorder

open access: yes
American Journal of Medical Genetics Part A, EarlyView.
E. Woods   +3 more
wiley   +1 more source

Protein turnover downstream of the Nipbl/CRL4 axis contributes to abnormal development in zebrafish embryos

open access: yesDevelopmental 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

Short Stature [PDF]

open access: yesJAMA, 2014
Ashley Reece, Anthony Cohn
  +4 more sources

The Double African Paradox: What does selective mortality tell us? [PDF]

open access: yes
We study the relationship between height stature and child mortality in West Africa. This is motivated by two things: understanding the determinants of height, widely used health indicator, and explaining the « double African paradox ».
Rouanet, Léa
core  

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

open access: yesDevelopmental 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

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