Results 111 to 120 of about 39,998 (271)
Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia [PDF]
The Pan African Medical Journal, 2011 BACKGROUND: Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern ...
Waleed Hamad Al Bu Ali +3 more
doaj
Finding a consensus between philosophy of applied and social sciences: A case of biology of human rights [PDF]
, 2020 This paper is an attempt to provide an adequate theoretical framework to understand the biological basis of human rights. We argue that the skepticism about human rights is increasing especially among the most rational, innovative and productive ...
Younas, Ammar
core
Advanced Science, EarlyView.We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren +6 more
wiley +1 more source
Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs
Advanced Science, EarlyView.Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang +13 more
wiley +1 more source
Medicina, 2019 Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including ...
Laura Cristina Gironi +10 more
doaj +1 more source
Advanced Intelligent Discovery, EarlyView.This study introduces an affordable machine learning platform for simultaneous dengue and zika detection using fluorine‐doped tin oxide thin films modified with gold nanoparticles and DNA aptamers. Designed for low‐cost, hardware‐limited devices (< $25), the model achieves 95.3% accuracy and uses only 9.4 kB of RAM, demonstrating viability for resource‐
Marina Ribeiro Batistuti Sawazaki +3 more
wiley +1 more source
Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]
, 2011 Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
core +1 more source
Advanced Intelligent Systems, EarlyView.This paper presents an integrated AI‐driven cardiovascular platform unifying multimodal data, predictive analytics, and real‐time monitoring. It demonstrates how artificial intelligence—from deep learning to federated learning—enables early diagnosis, precision treatment, and personalized rehabilitation across the full disease lifecycle, promoting a ...
Mowei Kong +4 more
wiley +1 more source
Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source