The utilization of computer planning and 3D-printed guide in the surgical management of a reverse Hill-Sachs lesion

Autor: Pierluigi Di Felice Ardente, MD, Fernando Menor Fusaro, MD, Miguel Pérez Abad, MD, Francisco Soldado, MD, PhD, Jordi Querolt Coll, MD

Publikováno v: JSES International, Vol 4, Iss 3, Pp 569-573 (2020)

Externí odkaz: https://doaj.org/article/f19a115033ca4d56aa5b408bdfd1ae59

COVID-19 pandemic and worldwide organ transplantation: a population-based study

Autor: Olivier Aubert, MD, Daniel Yoo, MPH, Dina Zielinski, PhD, Emanuele Cozzi, MD, Massimo Cardillo, MD, Michael Dürr, MD, Beatriz Domínguez-Gil, MD, Elisabeth Coll, MD, Margarida Ivo Da Silva, MD, Ville Sallinen, MD, Karl Lemström, MD, Karsten Midtvedt, MD, Camilo Ulloa, MD, Franz Immer, MD, Annemarie Weissenbacher, MD, Natalie Vallant, MD, Nikolina Basic-Jukic, MD, Kazunari Tanabe, MD, Georgios Papatheodoridis, PhD, Georgia Menoudakou, MSc, Martin Torres, MD, Carlos Soratti, MD, Daniela Hansen Krogh, Carmen Lefaucheur, MD, Gustavo Ferreira, MD, Helio Tedesco Silva, Jr, MD, David Hartell, MA, John Forsythe, MD, Lisa Mumford, MSc, Peter P Reese, MD, François Kerbaul, MD, Christian Jacquelinet, MD, Serge Vogelaar, MD, Vassilios Papalois, MD, Alexandre Loupy, MD

Publikováno v: The Lancet Public Health, Vol 6, Iss 10, Pp e709-e719 (2021)

Summary: Background: Preliminary data suggest that COVID-19 has reduced access to solid organ transplantation. However, the global consequences of the COVID-19 pandemic on transplantation rates and the effect on waitlisted patients have not been repo

Externí odkaz: https://doaj.org/article/eb04f7c21b8347bd8e36f5a796f765ba

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Autor: Camprubí C, Guitart M, Gabau E, Coll MD, Villatoro S, Oltra S, Roselló M, Ferrer I, Monfort S, Orellana C, Martínez F

Publikováno v: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Angelman syndrome (AS) is a genetic disorder caused by a deficiency of UBE3A imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the UBE3A gene. In two large Spa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1d8dbc833968399db35a97b6a5cb6931
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3803

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