Results 111 to 120 of about 162,110 (330)

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

Whole genome sequencing to characterize shiga toxin-producing Escherichia coli O26 in a public health setting

Journal of Infection and Public Health, 2019
Background: Shiga-toxin producing Escherichia coli (STEC) O26:H11 is the second most common cause of severe diarrhea and hemolytic uremic syndrome worldwide.
Baha Abdalhamid, Emily L. Mccutchen, Alyssa C. Bouska, Zhang Weiwei, Brianna Loeck, Steven H. Hinrichs, Peter C. Iwen   +6 more
doaj   +1 more source

Correction to: A comprehensive benchmarking of WGS-based deletion structural variant callers [PDF]

, 2022
Varuni Sarwal, Sebastian Niehus, Ram Ayyala, Minyoung Kim, Aditya Sarkar, Sei Chang, Angela Lu, Neha Rajkumar, Nicholas Darci-Maher, Russell Littman, Karishma Chhugani, Arda Soylev, Zoia Comarova, Emily Wesel, Jacqueline Castellanos   +14 more
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Genetic Ancestry Inference: from AIMS to WGS application and challenges in admixed population [PDF]

, 2022
Luciana Maia Escher, Michel Satya Naslavsky, Marília O. Scliar, Yeda A. O. Duarte, Mayana Zatz, Kelly Nunes, Silviene Fabiana de Oliveira   +6 more
openalex   +1 more source

WEHRMACHTGEFÄNGNIS (WG) GRAUDENZ

, 2022
After the Wehrmacht conquered Poland, the Germans reintegrated Graudenz (map 4c) (today Grudziądz, Poland) into Germany as part of Reichsgau Danzig-Westpreussen. The penitentiary there was converted into an Armed Forces Prison (Wehrmachtgefängnis, WG). One, albeit vague, clue as to the size of the prison comes from information on the original Graudenz ...
openaire   +1 more source

Current Advancements of Probiotic Foods and Their Role in Sustainable Food Security

Food Bioengineering, EarlyView.
ABSTRACT Probiotic foods have evolved from traditional fermented products to scientifically validated functional foods, defined by the FAO and WHO as live microorganism that confer a health benefit on the host when administered in adequate amounts, with effects being strain, does and end point specific.
Ashenafi Teklay Yaekob, Gebremedhin Gebreslassie, Etsay Mesele, Tesfakiros Semere   +3 more
wiley   +1 more source

Introduction of whole genome sequencing as NHS standard of care for glioma patients in two neurosurgical oncology centres: West Midlands

BJC Reports
Background The challenges of introducing Whole Genome Sequencing (WGS) as NHS standard of care for patients with glioma are reviewed. Methods Patients undergoing glioma surgery with WGS sampling were identified retrospectively from WGS reports between 01/
Victoria Wykes, Erminia Albanese, Vassili Crispi, Sana Manan, Taufiq Khan, Naomi Cole, Christine Bennett, Lowri Hughes, Natasha Vafadar, Vinton Cheng, Ute Pohl, Manoj Raghavan, Yvonne Wallis, Colin Watts   +13 more
doaj   +1 more source

Variant Prioritization by Pedigree-Based Haplotyping. [PDF]

Genet Epidemiol
ABSTRACT Whole genome sequence (WGS) data provides opportunities for comprehensive evaluation of variants that may influence complex traits. However, prioritizing the large number of variants, particularly those in non‐coding regions, is a challenge.
Nafikov RA, Sohi HK, Nato AQ, Horimoto AR, Day TRC, Bird TD, DeStefano AL, Blue EE, Wijsman EM.   +8 more
europepmc   +2 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source