Results 71 to 80 of about 1,305 (130)

A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study

, 2020
Background: Pediatric epileptic encephalopathy and severe neurological disorders comprise a group of heterogenous diseases. We used whole-exome sequencing (WES) to identify genetic defects in pediatric patients. Methods: Patients with refractory seizures
Shuan-Yow Li, Syuan-Yu Hong, Jiann-Jou Yang, Inn-Chi Lee   +3 more
core   +1 more source

Validation of Appropriate Reference Genes for qRT–PCR Normalization in Oat (Avena sativa L.) under UV-B and High-Light Stresses

, 2022
Oat is a food and forage crop species widely cultivated worldwide, and it is also an important forage grass in plateau regions of China, where there is a high level of ultraviolet radiation and sunlight.
Zhiqiang Gao, Li, Xiaoming, Yin, Hang, Jikai Li, Mingzhi Zhang, Yin, Danni, Zhang, Mingzhi, Li, Bing, Cui, Guowen, Hang Yin, Guowen Cui, Danni Yin, Gao, Zhiqiang, Xiaoming Li, Bing Li, Tuluhong, Muzhapaer, Muzhapaer Tuluhong, Li, Jikai   +17 more
core   +1 more source

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis.

, 2002
Item does not contain fulltextIsolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation ...
Rajagopalan, K.V., Johnson, J.L., Burgt, C.J.A.M. van der, Renier, W.O., Ruitenbeek, W., J. L. Johnson, W. O. Renier, W. Ruitenbeek, I. Van der Burgt, K. V. Rajagopalan   +9 more
core   +1 more source

A kaleidoscopic view of ovarian genes associated with polycystic ovary syndrome

, 2021
Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder affecting 6%–10% of reproductive-age women, and it is associated with defects in follicle functions.
Hsueh, Aaron J., Mumusoglu, SEZCAN, Yang, Qingling, Qingling Yang, Aaron J. Hsueh, Sezcan Mumusoglu   +5 more
core   +1 more source

Environ Health Perspect [PDF]

ObjectiveIn a study to identify exposures associated with 15 cases of childhood leukemia, we found levels of tungsten, arsenic, and dichlorodiphenyldichloroethylene in participants to be higher than mean values reported in the National Report on Human ...

core  

Genetic correlation between smoking behavior and gastroesophageal reflux disease: insights from integrative multi-omics data

BMC Genomics
Background Observational studies have preliminarily revealed an association between smoking and gastroesophageal reflux disease (GERD). However, little is known about the causal relationship and shared genetic architecture between the two.
Zhaoqi Yan, Yifeng Xu, Keke Li, Liangji Liu   +3 more
doaj   +1 more source

UEG Week 2025 Moderated Posters

United European Gastroenterology Journal, Volume 13, Issue S8, Page S189-S802, October 2025.
wiley   +1 more source

The chimeric origin of euknr shown by sequence-similarity network approach.

, 2019
Graphical representation of two pre-processed sequence similarity networks constructed from all-vs-all Blast hits between eukaryotic and prokaryotic proteins.
Sebastián R. Najle (5506880), Claudio Scazzocchio (763578), Iñaki Ruiz-Trillo (214679), Eduard Ocaña-Pallarès (6388172)   +3 more
core   +1 more source

Quantitative proteomics of molybdenum cofactor biosynthesis and utilization in Caenorhabditis elegans. [PDF]

J Biol Chem
Ditz N, Eubel H, Bhattacharya S, Warnhoff K, Oliphant K, Mendel RR.   +5 more
europepmc   +1 more source

Genetic spectrum of unexplained neonatal seizures: a single-center study. [PDF]

Transl Pediatr
Liu Z, He Y, Huang J, Yang H, Zeng Y, Yu L, Chen T, Wang L, Cai C, Wang R, Wu L, Xu J, Chen D.   +12 more
europepmc   +1 more source