Results 161 to 170 of about 73,228 (270)

PRISM: privacy-preserving rare disease analysis using fully homomorphic encryption. [PDF]

Bioinformatics
Akkaya G, Erdoğmuş N, Akgün M.
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Novel Algorithm for Monogenic Noninvasive Prenatal Testing With Highly Similar Parental Pathogenic Haplotypes: A Representative Case of Congenital Adrenal Hyperplasia Pedigree. [PDF]

Hum Mutat
Zhou W, Liu F, Li S, Wu D, Yang J.
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Pedigree Painter (pepa): a tool for the visualization of genetic inheritance in chromosomal context. [PDF]

Bioinformatics
Pozzi A.
europepmc   +1 more source

Use of DNA markers (AFLP) for genetically improving the productivity, palatability, sporability and dry matter content of tubers of greater yam. Final report [PDF]

, 2010
Abraham, K., Arnau, Gemma
core  

Predictors of etiology and drug resistance in children with new‐onset focal seizures

Epilepsia Open, EarlyView.
Abstract Objective To examine the clinical features of new‐onset focal seizures in children and investigate clinical associations and predictors of underlying etiology and drug resistance. Methods Data were gathered from The Children's Hospital at Westmead admissions for patients aged 1 month to 18 years who presented with new‐onset focal seizures ...
Byoung Chan Lee, Russell C. Dale, Elizabeth H. Barnes, Shekeeb S. Mohammad, Sachin Gupta, Chong Wong, Deepak Gill, Kavitha Kothur   +7 more
wiley   +1 more source

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review. [PDF]

Front Endocrinol (Lausanne)
Ricci V, Masnata ME, Villanueva Gonzalez MD, Enacán RE, Izquierdo A, Adrover E, Esnaola Azcoiti M, Sansó G, Scaglia PA, Rivolta CM, Targovnik HM, Rey RA, Ropelato MG, Chiesa AE, Nicola JP, Tellechea ML.   +15 more
europepmc   +1 more source

Affective Dimensions in Maternal Voice During Child Feeding in Mothers With and Without Eating Disorder History—Findings From a Machine Learning Analysis of Speech Data

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Eating disorder (ED) history may impact mother‐child communication during mealtimes and contribute to transgenerational transmission of ED. This study employed machine learning (ML) to identify speech characteristics during mother‐child feeding interactions, aiming for investigating whether vocalised affective characteristics differ ...
Jana Katharina Throm, Manuel Milling, Andreas Triantafyllopoulos, Alexander Kathan, Annica Franziska Dörsam, Johanna Löchner, Björn Schuller, Katrin Elisabeth Giel   +7 more
wiley   +1 more source

Inheritance of Calyx Abscission in Apple: A Trait with Potential Impact on Fruit Rot Susceptibility. [PDF]

Plants (Basel)
Pfeifer M, Peil A, Flachowsky H, Wöhner T.   +3 more
europepmc   +1 more source