Results 111 to 120 of about 90,363 (315)

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

EBioMedicine, 2015
Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown.
Samantha B. Foley, Jonathan J. Rios, Victoria E. Mgbemena, Linda S. Robinson, Heather L. Hampel, Amanda E. Toland, Leslie Durham, Theodora S. Ross   +7 more
doaj   +1 more source

WEHRMACHTGEFÄNGNIS (WG) GERMERSHEIM

, 2022
On September 9, 1936, the German Army High Command (Oberkommando des Heeres, OKH) issued an order for the former detention facility of the Germersheim fortress, built between 1834 and 1861, to be expanded to serve as a military prison for the Wehrmacht (map 4d).
openaire   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source

Comparison of VNTR-based clustering with WGS. [PDF]

, 2016
Comparison of VNTR-based clustering with WGS.
Timothy Brown (3191448), Simon R. Harris (124597), Francis Drobniewski (270248), Nicola Casali (3191451), Julian Parkhill (30393), Agnieszka Broda (2552638)   +5 more
core   +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

Discordance Between Phenotypic and WGS-Based Drug Susceptibility Testing Results for Some Anti-Tuberculosis Drugs: A Snapshot Study of Paired Mycobacterium tuberculosis Isolates with Small Genetic Distance [PDF]

Darja Sadovska,1 Anda Nodieva,2 Ilva Pole,1,2 Anda Vīksna,2,3 Jānis Ķimsis,1 Iveta Ozere,2,3 Inga Norvaiša,2 Ineta Bogdanova,2 Dace Bandere,4 Renāte Ranka1 1Latvian Biomedical Research and Study Centre, Riga, Latvia; 2Riga East ...
Ranka R, Pole I, Nodieva A, Ozere I, Norvaiša I, Sadovska D, Bandere D, Vīksna A, Ķimsis J, Bogdanova I   +9 more
core   +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

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Econometric analyses of microfinance credit group formation, contractual risks and welfare impacts in Northern Ethiopia [PDF]

, 2009
Key words Microfinance, joint liability, contractual risk, group formation, risk-matching, impact evaluation, Panel data econometrics, dynamic panel probit, trend models, fixed-effects, composite counterfactuals, propensity score matching, farm ...
Berhane Tesfay, G.
core  

Targeted and whole-genome sequencing for drug resistance and genetic relatedness inference of rifampicin-resistant Mycobacterium tuberculosis: an in-depth comparison

ERJ Open Research
Background Challenges in tuberculosis (TB) control have fuelled interest in routine next generation sequencing (NGS). However, the comparative performance of targeted NGS (tNGS) and whole genome sequencing (WGS) for drug resistance and genetic ...
Miguel de Diego Fuertes, Emilyn Costa Conceição, Felicia Wells, Vincent Rennie, Tim Heupink, Gavin Churchyard, Felix Ndebele, Anneke Van der Spoel Van Dijk, Boitumelo Fanampe, Salome Charalombous, Emmanuel Ayodeji Ogunbayo, Wilma Quispe Rojas, Rob M. Warren, Annelies Van Rie, Anzaan Dippenaar   +14 more
doaj   +1 more source