Results 21 to 30 of about 5,044 (130)

Inferring disease course from differential exon usage in the wide titinopathy spectrum

Annals of Clinical and Translational Neurology, Volume 11, Issue 10, Page 2745-2755, October 2024.
Abstract Objective Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult‐onset limb‐girdle muscular dystrophy, with or without cardiac involvement.
Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F. Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera De Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A. Kurbatov, Tania Attie‐Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese   +34 more
wiley   +1 more source

Abstract Supplement Abstracts from AIDS 2024, the 25th International AIDS Conference, 22 – 26 July, Munich, Germany & Virtual [PDF]

J Int AIDS Soc
Journal of the International AIDS Society, Volume 27, Issue S4, July 2024.
europepmc   +2 more sources

Ueg Week 2020 Poster Presentations

, 2020
United European Gastroenterology Journal, Volume 8, Issue S8, Page 144-887, October 2020.
wiley   +1 more source

UEG Week 2024 Moderated Posters [PDF]

United European Gastroenterol J
United European Gastroenterology Journal, Volume 12, Issue S8, Page 201-664, October 2024.
europepmc   +2 more sources

UEG Week 2019 Poster Presentations

, 2019
United European Gastroenterology Journal, Volume 7, Issue S8, Page 189-1030, October 2019.
wiley   +1 more source

Molecular autopsy in sudden cardiac death. [PDF]

Glob Cardiol Sci Pract, 2023
Campuzano O, Sarquella-Brugada G.
europepmc   +1 more source

UEG Week 2018 Oral Presentations

, 2018
United European Gastroenterology Journal, Volume 6, Issue S8, Page A1-A134, October 2018.
wiley   +1 more source

Adequacy of the 10 mg/kg Daily Dose of Antituberculosis Drug Isoniazid in Infants under 6 Months of Age. [PDF]

Antibiotics (Basel), 2023
López-Ramos MG, Vinent J, Aarnoutse R, Colbers A, Velasco-Arnaiz E, Martorell L, Falcón-Neyra L, Neth O, Prieto L, Guillén S, Baquero-Artigao F, Méndez-Echevarría A, Gómez-Pastrana D, Jiménez AB, Lahoz R, Ramos-Amador JT, Soriano-Arandes A, Santiago B, Farré R, Fortuny C, Soy D, Noguera-Julian A.   +21 more
europepmc   +1 more source

UEG Week 2018 Poster Presentations

, 2018
United European Gastroenterology Journal, Volume 6, Issue S8, Page A135-A747, October 2018.
wiley   +1 more source

Impact of the COVID-19 Pandemic on the Diagnosis of Congenital Cytomegalovirus Infection in Spain. [PDF]

Pediatr Infect Dis J, 2022
Villaverde S, Esquivel E, Baquero-Artigao F, Noguera-Julian A, Frick MA, Rojo P, Blázquez-Gamero D, on behalf of the Spanish Registry of Children with Congenital CMV .   +7 more
europepmc   +1 more source