Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Laura, Viola"'
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Hannah Masraf, Manoraj Navaratnarajah, Laura Viola, Davorin Sef, Pietro G. Malvindi, Szabolcs Miskolczi, Theodore Velissaris, Suvitesh Luthra
Publikováno v:
Medical Sciences, Vol 12, Iss 3, p 45 (2024)
Background: The aims of this study were to assess the perioperative morbidity, mortality and long-term survival of octogenarians undergoing acute type A aortic dissection repair (ATAAD), and to compare open and closed distal anastomosis techniques. M
Externí odkaz:
https://doaj.org/article/9044091161394bd58ae8de04f084f880
Publikováno v:
BMJ case reports. 15(7)
The purpose of this case report is to present a deviation analysis made to evaluate the accuracy and reproducibility of virtual surgical planning—computer-aided design—computer-aided manufacturing (CAD/CAM) technology.These techniques were used t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ddf92223b258ae91af0fb2b2f331705
https://pubmed.ncbi.nlm.nih.gov/35787497
https://pubmed.ncbi.nlm.nih.gov/35787497
Autor:
Adriana Martínez-Schiavo, Laura Viola
Publikováno v:
Medicina Clínica y Social, Vol 5, Iss 3, Pp 145-151 (2021)
Objetivo general: Descripción del trabajo realizado en la Policlínica Especializada en Conductas Autolesivas (PECA) de la Clínica de Psiquiatría Infantil. Presentación de un posible modelo de prevención del segundo o posteriores intentos de aut
Externí odkaz:
https://doaj.org/article/48ec926b3c4040de84f2bd544404c8ca
Autor:
Julio Torales, Israel González-Urbieta, Iván Barrios, Marcela Waisman-Campos, Alexandra Terrazas-Landivar, Laura Viola, Tomás Caycho-Rodríguez, Osvaldo Melgarejo, Rodrigo Navarro, Oscar García, José Almirón-Santacruz, João Mauricio Castaldelli-Maia, Antonio Ventriglio
Publikováno v:
Brain Sciences, Vol 13, Iss 3, p 444 (2023)
The COVID-19 pandemic has had a heavy impact on daily life, leading to physical and psychosocial consequences. Nowadays, clinicians and health researchers are particularly interested in describing and facing the long-term effects of COVID-19, also kn
Externí odkaz:
https://doaj.org/article/81b96f627db149d8925aeed07c862876
Publikováno v:
Computers, Vol 11, Iss 8, p 117 (2022)
Context—Anomaly detection in a data center is a challenging task, having to consider different services on various resources. Current literature shows the application of artificial intelligence and machine learning techniques to either log files or
Externí odkaz:
https://doaj.org/article/948a65411c874b27a9255d50ae33726a
Autor:
Federico Marchetti, Giacomo Biasucci, Andrea Cella, Lorenzo Iughetti, Anna Rita Di Biase, Giulia Graziani, Alessandro De Fanti, Enrico Valletta, Francesca Vaienti, Gianluca Vergine, Laura Viola
Publikováno v:
BMJ Paediatrics Open, Vol 4, Iss 1 (2020)
Objective To evaluate the effect of the COVID-19 epidemic on paediatric emergency department (ED) attendance in a region of Northern Italy.Methods A survey was proposed to six out of nine paediatric EDs in the Emilia Romagna region to evaluate attend
Externí odkaz:
https://doaj.org/article/a152f699fe594f0c98bde1d72f4ba4a5
Autor:
Francisco R. de la Peña, Lino R. Villavicencio, Juan D. Palacio, Fernando J. Félix, Marcela Larraguibel, Laura Viola, Silvia Ortiz, Marcos Rosetti, Andrea Abadi, Cecilia Montiel, Pablo A. Mayer, Sofía Fernández, Aurora Jaimes, Miriam Feria, Liz Sosa, Andrés Rodríguez, Patricia Zavaleta, Daniela Uribe, Frinne Galicia, Diana Botero, Santiago Estrada, Arturo F. Berber, Macarena Pi-Davanzo, Consuelo Aldunate, Gabriela Gómez, Ivannah Campodónico, Paula Tripicchio, Ignacio Gath, Manuel Hernández, Lino Palacios, Rosa E. Ulloa
Publikováno v:
BMC Psychiatry, Vol 18, Iss 1, Pp 1-7 (2018)
Abstract Background There are various language adaptations of the Schedule for Affective Disorders and Schizophrenia for School Age Children Present and Lifetime Version (K-SADS-PL). In order to comply with the changes in DSM classification, the Span
Externí odkaz:
https://doaj.org/article/bee3651ff0224a1abd94ca6ee420ac98
Publikováno v:
Computers; Volume 11; Issue 8; Pages: 117
Context—Anomaly detection in a data center is a challenging task, having to consider different services on various resources. Current literature shows the application of artificial intelligence and machine learning techniques to either log files or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f09db6f65ee7bcfcf994bbc4447cb041
https://doi.org/10.20944/preprints202206.0205.v1
https://doi.org/10.20944/preprints202206.0205.v1
