Results 21 to 30 of about 446,349 (194)

FSE2022benchmarks/termination: FSE2022benchmark-termination

, 2022
Benchmarks and result-files for paper "Large-Scale Analysis of Non-Termination Bugs in Real-World OSS Projects" (FSE ...
FSE2022benchmarks
core   +1 more source

ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities.

PLoS Genetics, 2020
Interpreting rare variants remains a challenge in personal genomics, especially for disorders with several causal genes and for genes that cause multiple disorders. ZNF423 encodes a transcriptional regulatory protein that intersects several developmental
Ojas Deshpande, Raquel Z Lara, Oliver R Zhang, Dorothy Concepcion, Bruce A Hamilton   +4 more
doaj   +1 more source

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria

Molecular Genetics & Genomic Medicine, 2021
Background Expanded carrier screening (ECS) utilizes high‐throughput next‐generation sequencing to evaluate an individual's carrier status for multiple conditions.
Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al‐Kouatly   +5 more
doaj   +1 more source

An Acute and Transient Psychotic Disorder in a Male Victim of Rape: A Case Report and a Nosological Question

Case Reports in Clinical Practice, 2022
Stress has a significant role in developing Acute and Transient Psychotic Disorder (ATPD). The condition resolves after stress termination without relapse for long years in many cases.
Ruohollah Seddigh, Amir-Abbas Keshavarz-Akhlaghi, Mahdieh Saeidi   +2 more
doaj  

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

Scientific Reports, 2023
Achromatopsia is an autosomal recessive cone photoreceptor disease that is frequently caused by pathogenic variants in the CNGA3 gene. Here, we present a systematic functional analysis of 20 CNGA3 splice site variants detected in our large cohort of ...
Peggy Reuter, Magdalena Walter, Susanne Kohl, Nicole Weisschuh   +3 more
doaj   +1 more source

Transcriptional termination enhances protein expression in human cells [PDF]

, 2009
Transcriptional termination of mammalian RNA polymerase II (Pol II) requires a poly(A) (pA) signal and, often, a downstream terminator sequence. Termination is triggered following recognition of the pA signal by Pol II and subsequent pre-mRNA cleavage ...
Proudfoot, Nicholas J, West, S, Proudfoot, NJ, West, Steven, Proudfoot, Nicholas   +4 more
core   +1 more source

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report

BMC Medical Genetics, 2019
Background Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. Case presentation We report on a
Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, Zuhair N. Al-Hassnan, Heba M. Al-Qattan   +4 more
doaj   +1 more source

Women’s experiences of coping with pregnancy\ud termination for fetal abnormality [PDF]

, 2013
Pregnancy termination for fetal abnormality (TFA) can have significant psychological consequences. Most research focus on measuring the psychological outcome of TFA,\ud and little is known about the coping strategies involved.
Lafarge, Caroline, Mitchell, Kathryn, Fox, Pauline   +2 more
core   +1 more source

Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene

Medicine, 2021
Abstract Trisomy 9p is one of the most common chromosomal partial trisomies in newborns. However, reports on prenatal 9p microduplications are rare in the clinic. This study aimed to examine the genotype–phenotype correlation and assess the clinical significance of 9p24.3 microduplication encompassing the DOCK8 gene.
Fagui Yue, Yang Yu, Xinyue Zhang, Yuting Jiang, Leilei Li, Ruizhi Liu, Hongguo Zhang   +6 more
openaire   +2 more sources

Ictal Asystole [PDF]

Circulation: Arrhythmia and Electrophysiology, 2015
Ictal bradycardia and ictal asystole, although well known to neurologists, have received relatively little attention in the cardiology community. Consequently, in certain instances, the true pathogenesis for heart rate slowing (ie, epilepsy) may be missed, and the bradyarrhythmia incorrectly attributed to other causes.
Benditt, D.G., Dijk, G. van, Thijs, R.D.
openaire   +3 more sources