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المؤلفون: Liani Devito, Afshan N. Malik, Preeti Khurana, Nikola Kolundzic, Vladimir M. Jovanović, Norah M. E. Fogarty, Dusko Ilic, Russell A. Foulk, Shirin Elizabeth Khorsandi, Hannah S. Rosa, Kathy K. Niakan, Gnanaratnam Giritharan, Caroline Mackie Ogilvie, Mohammad Saleh Ardawi, Laila Noli, Nigel Heaton, Patrick F. Chinnery, Angela Pyle, Yacoub Khalaf, Aleksandra Cvoro, Antonio Capalbo
المصدر: Stem Cells (Dayton, Ohio)
مصطلحات موضوعية: 0301 basic medicine, Thyroid Hormones, oxidative phosphorylation, Respiratory chain, Mitochondrion, Biology, 7. Clean energy, Embryonic Stem Cells/Induced Pluripotent Stem Cells, Andrology, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, medicine, Humans, Inner cell mass, Blastocyst, Triiodothyronine, Thyroid, embryo development, Embryo, Cell Biology, T3, thyroid hormone, mitochondria, 030104 developmental biology, medicine.anatomical_structure, embryonic structures, Molecular Medicine, Female, 030217 neurology & neurosurgery, Developmental Biology, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32e660a3bd86eab1311bd44bf6f8832bTest
https://doi.org/10.1002/stem.3129Test -
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المؤلفون: R Mishra, Mariya Moosajee, G Cairns, Patrick Yu-Wai-Man, Maria Toms, Angela Pyle, Florence Burté, R Price, J A Sayer, E O'Connor
المساهمون: Apollo - University of Cambridge Repository, Yu Wai Man, Patrick [0000-0001-7847-9320]
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: medicine.medical_specialty, Wolfram syndrome, Science, Mutant, Retinal ganglion, Gene Knockout Techniques, 03 medical and health sciences, 631/208, 0302 clinical medicine, Atrophy, Downregulation and upregulation, Internal medicine, Genetics, medicine, Animals, Eye diseases, Zebrafish, 030304 developmental biology, 0303 health sciences, Multidisciplinary, biology, Endoplasmic reticulum, article, Membrane Proteins, Wolfram Syndrome, medicine.disease, biology.organism_classification, 3. Good health, Disease Models, Animal, Optic Atrophy, Endocrinology, Codon, Nonsense, Mutation, Unfolded Protein Response, Unfolded protein response, 692/699/3161, Medicine, 030217 neurology & neurosurgery
وصف الملف: application/zip; application/pdf; text/xml; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a03ad437b5fae7ab92706cc925fb86Test
https://www.repository.cam.ac.uk/handle/1810/329488Test -
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المؤلفون: Husain Ra, Thomas Meitinger, Wilichowski E, Robert Kopajtich, Smirnov D, Ewa Pronicka, Christine Makowski, Elżbieta Ciara, Michael Wagner, Felix Distelmaier, René Santer, Olsen R, Wolstein T, Theresa Brunet, Muller-Felber W, Buchner B, Wolfgang Sperl, Maja Hempel, Stefan Kölker, Dominic Lenz, Sarah L. Stenton, Saskia B. Wortmann, Leiz S, Kei Murayama, Munoz-Pujol G, Konstantopoulou, Xu M, Tobias B. Haack, Tim M. Strom, Riccardo Berutti, Tsygankova P, Lim Az, Daniele Ghezzi, Robert McFarland, Deen D, Kotzaeridou U, Daniela Karall, Ardissone A, Charlotte L. Alston, Markus Schuelke, Thomas Klopstock, Peter Freisinger, Robert W. Taylor, Ban R, Verloo P, van Coster R, Shimura M, Agnès Rötig, Dariusz Rokicki, Yepez, Mandel H, Akira Ohtake, Angela Pyle, Yasushi Okazaki, Mirjana Gusic, Antonia Ribes, Costanza Lamperti, Fang F, Holger Prokisch, von Kleist-Retzow J, Ivo Barić, Julien Gagneur, Bader Alhaddad, Dorota Piekutowska-Abramczuk, Johannes A. Mayr, Michael Zech, Frederic Tort, Schiff M
مصطلحات موضوعية: 0303 health sciences, business.industry, Mitochondrial disease, Precision medicine, medicine.disease, Bioinformatics, Phenotype, 3. Good health, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, medicine, Functional studies, business, Gene, Mitochondrial protein, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::477c1c8ee5e39ca98f55206e438dd9a3Test
https://doi.org/10.1101/2021.06.21.21259171Test -
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المؤلفون: Monika Oláhová, Michel Koenig, Hessa S Alsaif, Selina Reich, Claire Guissart, Silvia Azzarello-Burri, Ludger Schöls, Anita Rauch, Tuomo M Polvikoski, Pierre Meyer, Matthis Synofzik, Jack J Collier, Nicolas Leboucq, Fumi Suomi, François Rivier, Mina Ryten, Nuria Martinez-Lopez, Lise Larrieu, Suad Alyamani, Fowzan S Alkuraya, Angela Bahr, Souphatta Sasorith, Stephan Zuchner, Angela Pyle, Charu Deshpande, Inês A Barbosa, David Zhang, Andrew M. Schaefer, Thomas G McWilliams, Florence Piron-Prunier, Robert McFarland, Agnès Delahodde, Robert W. Taylor
المساهمون: Newcastle University [Newcastle], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University College of London [London] (UCL), Albert Einstein College of Medicine [New York], Universität Zürich [Zürich] = University of Zurich (UZH), University of Tübingen, University of Miami Leonard M. Miller School of Medicine (UMMSM), King‘s College London, Guy's and St Thomas' Hospital [London], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
المصدر: The New England journal of medicine 384(25), 2406-2417 (2021). doi:10.1056/NEJMoa1915722
New England Journal of Medicine
New England Journal of Medicine, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩
New England Journal of Medicine, Massachusetts Medical Society, 2021, 384 (25), pp.2406-2417. ⟨10.1056/NEJMoa1915722⟩مصطلحات موضوعية: Male, metabolism [Muscle, Skeletal], Developmental Disabilities, [SDV]Life Sciences [q-bio], medicine.disease_cause, Autophagy-Related Protein 7, physiology [Autophagy-Related Protein 7], pathology [Muscle, Skeletal], 0302 clinical medicine, genetics [Nervous System Malformations], Cerebellum, Missense mutation, ComputingMilieux_MISCELLANEOUS, Cells, Cultured, 0303 health sciences, Mutation, Atg7 protein, human, General Medicine, genetics [Ataxia], Phenotype, 3. Good health, Cell biology, genetics [Developmental Disabilities], Pedigree, Female, Intracellular, Adult, Adolescent, genetics [Autophagy], physiology [Autophagy], Mutation, Missense, Genes, Recessive, Nervous System Malformations, genetics [Abnormalities, Multiple], 03 medical and health sciences, genetics [Autophagy-Related Protein 7], medicine, Autophagy, Humans, Abnormalities, Multiple, Computer Simulation, ddc:610, Muscle, Skeletal, Gene, 030304 developmental biology, abnormalities [Face], business.industry, Infant, Fibroblasts, Embryonic stem cell, abnormalities [Cerebellum], Face, Ataxia, Perinatal lethal, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3788ee63101da27a0b9ff3a8224c4f7Test
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المؤلفون: Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati
المساهمون: University of Cambridge [UK] (CAM), Columbia University [New York], University of Sheffield [Sheffield], University of Cincinnati (UC), St George's, University of London, Vrije Universiteit Amsterdam [Amsterdam] (VU), Golden Jubilee National Hospital, Glasgow, Royal Free Hospital [London, UK], Heidelberg University Hospital [Heidelberg], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Technische Hochschule Mittelhessen - University of Applied Sciences [Giessen] (THM), Fondazione IRCCS Policlinico San Matteo, Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Universität Heidelberg [Heidelberg], Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Imperial College London, Royal Hallamshire Hospital, University of Graz, Freeman Hospital, Royal United Hospitals Bath (RUH), Great Ormond Street Hospital for Children [London] (GOSH), Royal Papworth Hospital, Cambridge Biomedical Campus, Cambridge, United Kingdom., King‘s College London, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität [Graz, Autriche], Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Swietlik, Emilia [0000-0002-4095-8489], Megy, Karyn [0000-0002-2826-3879], Tilly, Tobias [0000-0002-6762-5342], Stephens, Jonathan [0000-0003-2020-9330], Toshner, Mark [0000-0002-3969-6143], Morrell, Nicholas [0000-0001-5700-9792], Graf, Stefan [0000-0002-1315-8873], Apollo - University of Cambridge Repository, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Karl-Franzens-Universität Graz, HAL-SU, Gestionnaire, British Heart Foundation, The Academy of Medical Sciences
المصدر: Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155Test
Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Cardiac & Cardiovascular Systems, genetic association studies, 030204 cardiovascular system & hematology, Biology, Bayesian inference, 03 medical and health sciences, 0302 clinical medicine, Missing heritability problem, pulmonary hypertension, medicine, Family history, Gene, Genetics & Heredity, Genetics, family history, Science & Technology, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Kinase insert domain receptor, computed tomography, General Medicine, Original Articles, medicine.disease, Pulmonary hypertension, Phenotype, 3. Good health, 030104 developmental biology, Cardiovascular System & Cardiology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Life Sciences & Biomedicine, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, vascular endothelial growth factor receptor
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524b66714d301fd180ea8d1d09ee8e86Test
https://hal.sorbonne-universite.fr/hal-03104099Test -
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المؤلفون: Michio Hirano, Mamta Giri, Ana Cotta, Hanns Lochmüller, Angela Pyle, Julia Filardi Paim, Matthew J. Jennings, Veronika Boczonadi, Jennifer Duff, Andreas Roos, Helen Griffin, Vamsi K. Mootha, Aurora Gomez-Duran, Adela Della Marina, Eric P Hoffmann, Joanna Poulton, Michael G. Hanna, Robert D S Pitceathly, Kristine Chapman, Juliane S Müller, Kairit Joost, Denisa Hathazi, Claudia Calabrese, Benjamin Munro, Sarah F Pearce, Salvatore DiMauro, Monica Machado Navarro, Michal Minczuk, Mar Tulinius, Wei Wei, Serenella Servidei, Michele Giunta, Christopher A. Powell, Johanna Uusimaa, Rita Horvath, Andre Mattman, Patrick F. Chinnery, Ulrike Schara
المساهمون: Powell, Christopher [0000-0001-7501-0586], Joost, Kairit [0000-0003-2544-3230], Minczuk, Michal [0000-0001-8242-1420], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: The EMBO Journal
مصطلحات موضوعية: Male, Proteomics, reversible infantile respiratory chain deficiency, Mitochondrial Diseases, Medizin, Gene Expression, medicine.disease_cause, igenic inheritance, digenic inheritance, Quadriceps Muscle, 0302 clinical medicine, Mitochondrial myopathy, Membrane & Intracellular Transport, 0303 health sciences, Mutation, tRNA Methyltransferases, General Neuroscience, Mitochondrial Myopathies, Articles, Digenic inheritance, Penetrance, 3. Good health, Mitochondria, Pedigree, homoplasmic tRNA mutation, Female, medicine.medical_specialty, Mitochondrial DNA, Adolescent, Mitochondrial disease, Biology, DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Article, Cell Line, Mitochondrial Proteins, 03 medical and health sciences, Lipid oxidation, Internal medicine, medicine, Humans, Molecular Biology, 030304 developmental biology, General Immunology and Microbiology, mitochondrial myopathy, Infant, medicine.disease, Endocrinology, Metabolism, Mitochondrial biogenesis, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7702b627553ef1fc91f44444ca1ad45dTest
http://europepmc.org/articles/PMC7705457Test -
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المؤلفون: Michele Giunta, Hanns Lochmueller, Monica Machado Navarro, Denisa Hathazi, Sarah F Pearce, Serenella Servidei, Michal Minczuk, Manta Giri, Christopher A. Powell, Vamsi K. Mootha, Juliane S Mueller, Claudia Calabrese, Benjamin Munro, Rita Horvath, Veronika Boczonadi, Matthew J. Jennings, Ana Cotta, Andreas Roos, Eric P Hoffmann, Angela Pyle, Michael G. Hanna, Mar Tulinius, Michio Hirano, Wei Wei, Joanna Poulton, Kristine Chapman, Julia Filardi Paim, Robert D S Pitceathly, Helen Griffin, Andre Mattmann, Aurora Gomez-Duran, Johanna Uusima, Ulrike Schara, Kairit Joost, Jennifer Duff, Salvatore DiMauro, Patrick F. Chinnery
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Mutation, Mitochondrial DNA, Mitochondrial translation, Catabolism, Mitochondrial disease, Biology, medicine.disease_cause, medicine.disease, Penetrance, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Mitochondrial myopathy, Mitochondrial biogenesis, Internal medicine, medicine, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df47fd8ee77de56e35ac6c2738539029Test
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المؤلفون: Langping He, Kieren G. Hollingsworth, Hannah E. Steele, Renae J. Stefanetti, Sila Hopton, Rita Horvath, Leonardo Bottolo, Aurora Gomez-Duran, Angela Pyle, Jane Newman, Alan J. Robinson, Carlo Viscomi, Sarah J. Charman, Jehill D Parikh, Djordje G. Jakovljevic, Robert W. Taylor, Patrick F. Chinnery
المساهمون: Gomez-Duran, Aurora [0000-0002-5895-6860], Viscomi, Carlo [0000-0001-6050-0566], Taylor, Robert W [0000-0002-7768-8873], Bottolo, Leonardo [0000-0002-6381-2327], Horvath, Rita [0000-0002-9841-170X], Chinnery, Patrick F [0000-0002-7065-6617], Apollo - University of Cambridge Repository
المصدر: EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 3, Pp n/a-n/a (2020)مصطلحات موضوعية: 0301 basic medicine, Mitochondrial encephalomyopathy, Mitochondrial DNA, Medicine (General), FGF21, Mitochondrial disease, Pharmacology, QH426-470, 03 medical and health sciences, bezafibrate, metabolomics, mitochondrial disorder, mitochondrial DNA, mitochondrial encephalomyopathy, 0302 clinical medicine, R5-920, Mitochondrial myopathy, Report, Chemical Biology, medicine, Genetics, Humans, Metabolomics, Mitochondrial Encephalomyopathy, Bezafibrate, Organelle Biogenesis, business.industry, Mitochondrial Myopathies, medicine.disease, 3. Good health, Mitochondria, 030104 developmental biology, Metabolism, Mitochondrial biogenesis, Mitochondrial Disorder, Molecular Medicine, Liver function, Genetics, Gene Therapy & Genetic Disease, business, 030217 neurology & neurosurgery, medicine.drug
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/jpeg
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83114404c383ad1358003694294b129fTest
https://www.repository.cam.ac.uk/handle/1810/303934Test -
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المؤلفون: Gavin Hudson, Mauro Santibanez-Koref, Hannah Lowes, Angela Pyle
المصدر: Molecular Neurodegeneration
Molecular Neurodegeneration, Vol 15, Iss 1, Pp 1-8 (2020)مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, Parkinson's disease, Neurology, Short Report, Circulating cell-free mitochondrial DNA, Disease, lcsh:Geriatrics, DNA, Mitochondrial, lcsh:RC346-429, Sepsis, Antiparkinson Agents, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Internal medicine, medicine, Humans, Neurodegeneration, Molecular Biology, lcsh:Neurology. Diseases of the nervous system, Depression (differential diagnoses), business.industry, Parkinson Disease, Biomarker, medicine.disease, Molecular medicine, 3. Good health, lcsh:RC952-954.6, 030104 developmental biology, Parkinson’s disease, Biomarker (medicine), Neurology (clinical), business, Cell-Free Nucleic Acids, 030217 neurology & neurosurgery, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80d18abaef58575369eb67c19e75d8bTest
http://europepmc.org/articles/PMC7029508Test -
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المؤلفون: Anna L. Guyatt, Angela Pyle, Patrick F. Chinnery, Heather J. Cordell, Santiago Rodriguez, Raimondo Ascione, Gavin Hudson, Rebecca R. Brennan, Kimberley Burrows, Debbie A Lawlor, Susan M. Ring, Tom R. Gaunt, Philip A. I. Guthrie
المساهمون: Apollo - University of Cambridge Repository, Chinnery, Patrick [0000-0002-7065-6617]
المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-17 (2019)
Human Genomics
Guyatt, A L, Brennan, R R, Burrows, K, Guthrie, P A I, Ascione, R, Ring, S M, Gaunt, T R, Pyle, A, Cordell, H J, Lawlor, D A, Chinnery, P F, Hudson, G & Rodriguez, S 2019, ' A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts ', Human Genomics, vol. 13, no. 1, 6 . https://doi.org/10.1186/s40246-018-0190-2Testمصطلحات موضوعية: Adult, Male, Genome-wide association study, Mitochondrial DNA, Adolescent, DNA Copy Number Variations, lcsh:QH426-470, In silico, lcsh:Medicine, Genomics, Locus (genetics), Single-nucleotide polymorphism, Biology, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Humans, Genetic epidemiology, Child, 030304 developmental biology, Genetic association, Genetics, 0303 health sciences, lcsh:R, Infant, Newborn, Middle Aged, ALSPAC, Complex traits, TFAM, lcsh:Genetics, Female, Primary Research, 030217 neurology & neurosurgery
وصف الملف: application/pdf; application/octet-stream
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d9bf098d7149352446bcccb9a554fcTest