Results 61 to 70 of about 46,773 (300)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif   +3 more
wiley   +1 more source

Anthropometrical evaluation.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1972
No Abstract.
Loots, J.M., Lamprecht, De V.
openaire   +2 more sources

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa   +23 more
wiley   +1 more source

New Equations for the Estimation of the Age of the Formation of the Harris Lines

open access: yesLife
Harris Lines (HLs) are transverse, sclerotic lines that can be visualized by X-ray imaging and that occur in long bones, most commonly in the tibia and femur.
Michał J. Kulus   +5 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide   +10 more
wiley   +1 more source

Does Community Driven Development Work? Evidence from Senegal [PDF]

open access: yes
Community Driven Development (CDD) programs are an extremely important component of the World Bank's portfolio in the developing world, representing close to $7 billion in 2003, yet solid empirical evidence on their impact is relatively scarce ...
Jean-Louis Arcand, Léandre Bassole
core   +3 more sources

The Prognostic Significance of Handgrip Strength in Cirrhosis: Simplicity Is the Ultimate Sophistication

open access: yesPortal Hypertension & Cirrhosis
Cirrhosis serves as the final stage of various chronic liver damage, accounting for around one million deaths annually in the world. Given the clinical significance and the imperative to relieve this social as well as healthcare burden in relation to ...
Binxin Cui, Ziyi Yang, Chao Sun
doaj   +1 more source

A literature review of the anthropometric studies of school students for ergonomics purposes: are accuracy, precision and reliability being considered? [PDF]

open access: yes, 2017
BACKGROUND: Despite offering many benefits, direct manual anthropometric measurement method can be problematic due to their vulnerability to measurement errors.
Arezes, Pedro   +4 more
core   +1 more source

Complementary multi‐omics profiling of chronic thromboembolic pulmonary hypertension reveals immune cell alterations, epigenetic changes, and genetically supported candidate genes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study presents an integrative multi‐omics framework to uncover the molecular mechanisms and potential biomarkers of chronic thromboembolic pulmonary hypertension (CTEPH). Anthropometric and biochemical data were correlated using canonical correlation analysis, revealing key cardiometabolic associations. Single‐cell RNA sequencing identified immune
Xiaopeng Liu   +4 more
wiley   +1 more source

CORRELATIONS BETWEEN ANTHROPOMETRIC CHARACTERISTICS AND MOTOR ABILITIES IN ADOLESCENTS WITH POSTURAL DISORDERS AFFECTING THE SAGITTAL PLANE

open access: yesExercise and Quality of Life, 2010
A group of adolescents with postural distortion in the sagittal plane were used as a sample group to study the relations between anthropometric characteristics and motor abilities. The total sample included 202 students (79 boys and 123 girls).
Tijana Krsmanović   +3 more
doaj   +1 more source

Home - About - Disclaimer - Privacy