Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Jennifer Duff"'
Publikováno v:
Journal of Medical Education and Curricular Development, Vol 8 (2021)
Background: At the University of Florida (UF), hematology-oncology (HO) fellows participate in 2 general types of continuity clinic as part of their fellowship training. One clinic, at the Veterans Hospital (VA), allows fellows to care for patients w
Externí odkaz:
https://doaj.org/article/ddea05e1132c4ee3bd572dd57f308c69
Autor:
Thomas M Connor, Simon Hoer, Andrew Mallett, Daniel P Gale, Aurora Gomez-Duran, Viktor Posse, Robin Antrobus, Pablo Moreno, Marco Sciacovelli, Christian Frezza, Jennifer Duff, Neil S Sheerin, John A Sayer, Margaret Ashcroft, Michael S Wiesener, Gavin Hudson, Claes M Gustafsson, Patrick F Chinnery, Patrick H Maxwell
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006620 (2017)
Tubulointerstitial kidney disease is an important cause of progressive renal failure whose aetiology is incompletely understood. We analysed a large pedigree with maternally inherited tubulointerstitial kidney disease and identified a homoplasmic sub
Externí odkaz:
https://doaj.org/article/6685dd0c725b4fedbc65cf57e4a7ebde
Autor:
Enriqueta Felip, Josep Tabernero, Maria De Santis, Emile Voest, Mark Robson, Fatima Cardoso, Elisabeth G E de Vries, Fedro Alessandro Peccatori, Svetlana Jezdic, Giannis Mountzios, Smita Bhatia, Alexandru Eniu, Luzia Travado, Ulrich Keilholz, Jonas Bergh, Jan Buckner, Friedrich Stiefel, Ahmad Awada, Cristiana Sessa, Olivier Michielin, Marc Ernstoff, Ben Markman, Lisa Licitra, Rossana Berardi, Jill Gilbert, Lidia Schapira, Eva Schernhammer, Jeffrey S Weber, Heinz-Josef Lenz, Piotr Rutkowski, Jennifer Duff, Axel Grothey, Yuichiro Ohe, Saskia Litiere, Hans Wildiers, Christian Dittrich, Michael Kosty, Doug Pyle, Nagi El-Saghir, Jean-Pierre Lotz, Pia Österlund, Nicholas Pavlidis, Gunta Purkalne, Susana Banerjee, Jan Bogaerts, Paolo Casali, Edward Chu, Julia Lee Close, Bertrand Coiffier, Roisin Connolly, Sarah Coupland, Luigi De Petris, Don S Dizon, Linda R Duska, Martin F Fey, Nicolas Girard, Andor W J M Glaudemans, Priya K Gopalan, Stephen M Hahn, Diana Hanna, Christian Herold, Jørn Herrstedt, Krisztian Homicsko, Dennie V Jones, Lorenz Jost, Saad Khan, Alexander Kiss, Claus-Henning Köhne, Rainer Kunstfeld, Stuart Lichtman, Thomas Lion, Lifang Liu, Patrick J Loehrer, Merry Jennifer Markham, Marius Mayerhoefer, Johannes G Meran, Elizabeth Charlotte Moser, Timothy Moynihan, Torsten Nielsen, Kjell Öberg, Antonio Palumbo, Michael Pfeilstöcker, Chandrajit Raut, Scot C Remick, Roberto Salgado, Martin Schlumberger, Hans-Joachim Schmoll, Lowell Schnipper, Charles L Shapiro, Julie Steele, Cora N Sternberg, Florian Strasser, Roger Stupp, Richard Sullivan, Marcel Verheij, Everett Vokes, Jamie Von Roenn, Yosef Yarden
Publikováno v:
ESMO Open, Vol 1, Iss 5 (2016)
The European Society for Medical Oncology (ESMO) and the American Society of Clinical Oncology (ASCO) are publishing a new edition of the ESMO/ASCO Global Curriculum (GC) thanks to contribution of 64 ESMO-appointed and 32 ASCO-appointed authors. Firs
Externí odkaz:
https://doaj.org/article/03442ec458e245ef83ebe8453a3f265c
Publikováno v:
MedEdPORTAL, Vol 11 (2015)
Abstract Introduction Breast cancer treatment involves multidisciplinary teams with varying levels of expertise. This module is intended to enhance the knowledge base of healthcare professionals regarding the prevention, diagnosis, and treatment of e
Externí odkaz:
https://doaj.org/article/70e4cca084bd44a1832905e0c77ab083
Autor:
Hazim Kadhim, Eliane El-Howayek, Sandra Coppens, Jennifer Duff, Ana Topf, Jean-Paul Kaleeta, Paolo Simoni, Grammatina Boitsios, Gauthier Remiche, Volker Straub, Catheline Vilain, Nicolas Deconinck
Publikováno v:
Neuromuscular Disorders. 33:410-416
Autor:
Magdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, Solange Kapetanovic Garcia, Didem Ardicli, Haluk Topaloglu, Aurelio Hernández-Laín, Diclehan Orhan, Mehmet Alikasifoglu, Jennifer Duff, Sabine Specht, Kristen Nowak, Gianina Ravenscroft, Katherine Chao, Zaheer Valivullah, Sandra Donkervoort, Dimah Saade, Carsten Bönnemann, Volker Straub, Grace Yoon
Publikováno v:
J Med Genet
BackgroundBiallelic pathogenic variants inFXR1have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form charac
Autor:
Jorge Alonso-Pérez, Ricard Rojas-García, Isabel Illa, Álvaro Giménez-Muñoz, Ana Töpf, Jordi Díaz-Manera, Volker Straub, Ana B Casasús, Jennifer Duff
Publikováno v:
Neuromuscular Disorders. 31:769-772
Defects in the HEXB gene which encodes the β-subunit of β-hexosaminidase A and B enzymes, cause a GM2 gangliosidosis, also known as Sandhoff disease, which is a rare lysosomal storage disorder. The most common form of the disease lead to quickly pr
Autor:
Rita Barresi, T. Polvikoski, Sabine Specht, Jennifer Duff, Volker Straub, Richard Charlton, Ana Töpf
Publikováno v:
Neuromuscular Disorders. 31:660-665
Recessive mutations in the LAMA2 gene lead to congenital muscular dystrophy type 1A and limb girdle muscular dystrophy R23 with complete or partial laminin α2 chain deficiency. Complete laminin α2 chain deficiency presents with early onset of sever
Autor:
Robert W. Motl, Charles H. Bombardier, Jennifer Duffecy, Brooks Hibner, Alison Wathen, Michael Carrithers, Gary Cutter
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-14 (2024)
Abstract Background Major depressive disorder (MDD) is prevalent, yet sub-optimally treated among persons with multiple sclerosis (MS). We propose that exercise training may be a promising approach for treating depression in persons with MS who have
Externí odkaz:
https://doaj.org/article/58454dcacd694304aad85509831dd1e7
Autor:
Conrad C. Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Domínguez-González, Abdulaziz Alsaman, Aurelio Hernández-Laín, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olivé, Gianina Ravenscroft, Volker Straub
Publikováno v:
ACTA NEUROPATHOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta Neuropathol
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta Neuropathol
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a691706cb645a7b30177cc8485ecf
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13854
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13854