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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: Ahmad Alahmad, Robert McFarland, Robert W Taylor, Buthaina Albash, Angela Pyle, Hebatallah Muhammad
المصدر: Journal of Biochemical and Clinical Genetics. :54-64
مصطلحات موضوعية: Genetics, Candidate gene, education.field_of_study, Mitochondrial disease, Genetic counseling, Population, Mitochondrion, Biology, medicine.disease, Genome, DNA sequencing, medicine, education, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::284c35fd1c795ff33d5ca7becdcd9c76Test
https://doi.org/10.24911/jbcgenetics/183-1548325196Test -
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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: Monika Oláhová, Jia-Xin Tang, Robert W. Taylor, Angela Pyle
المصدر: Genes, Vol 12, Iss 1604, p 1604 (2021)
Genesمصطلحات موضوعية: Mitochondrial Diseases, Mitochondrial disease, Review, Computational biology, Disease, QH426-470, Biology, Genome editing, Genetics, medicine, Humans, genome editing, CRISPR, Mitochondrial biology, CRISPR/Cas9, Gene, Genetics (clinical), cell and animal models, Gene Editing, Cas9, medicine.disease, Mitochondria, mitochondrial disease, mitochondrial biology, CRISPR-Cas Systems, genome-wide CRISPR libraries screening, Function (biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152f67ccbd8a8446803fc7d7c6adfcc4Test
https://doi.org/10.3390/genes12101604Test -
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المؤلفون: Nadine Romain, Thomas Meitinger, Claudia Donnini, Patrick F. Chinnery, Christopher A. Powell, Tim M. Strom, Ileana Ferrero, Richard J. Rodenburg, Markus Schuelke, Gudrun Schottmann, Joanna Rorbach, Helen Griffin, Laura S. Kremer, Robert W. Taylor, Angela Pyle, Holger Prokisch, Michal Minczuk, Robert Kopajtich, Charlotte L. Alston, Tobias B. Haack, Cristina Dallabona, Ralf A. Husain, Ronald G. Haller, Aaron R. D’Souza
المصدر: American Journal of Human Genetics, 97, 2, pp. 319-28
American Journal of Human Genetics, 97, 319-28
Am J Hum Genetمصطلحات موضوعية: Models, Molecular, Mitochondrial Diseases, Molecular Sequence Data, Respiratory chain, Biology, Compound heterozygosity, Polymerase Chain Reaction, Human mitochondrial genetics, RNA, Transfer, Report, Genetics, medicine, Humans, Genetics(clinical), Exome, Amino Acid Sequence, RNA Processing, Post-Transcriptional, Frameshift Mutation, Base Pairing, Gene, Genetics (clinical), tRNA Methyltransferases, Base Sequence, TRNA Methyltransferase, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Sequence Analysis, DNA, medicine.disease, Phenotype, Pedigree, Post-transcriptional modification, Lactic acidosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2433e36b0d9be5c3d33c991f3fe1bffTest
https://hdl.handle.net/2066/154074Test -
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المؤلفون: Henrik Strahl, Patrick F. Chinnery, Gavin Hudson, Naoko Irie, Wei Wei, Dusko Ilic, Antonio Capalbo, Jonathan Coxhead, Yacoub Khalaf, Brendan A I Payne, Moira Crosier, Walfred C. W. Tang, Laila Noli, Angela Pyle, Vasileios I. Floros, M. Azim Surani, Sabine Dietmann, Mitinori Saitou
المصدر: Nature cell biology. 20(2)
مصطلحات موضوعية: 0301 basic medicine, DNA Replication, Mitochondrial DNA, Population, Embryonic Development, Mitochondrion, Biology, DNA, Mitochondrial, Article, 03 medical and health sciences, chemistry.chemical_compound, RNA, Transfer, medicine, Humans, education, Gene, education.field_of_study, Gene Expression Regulation, Developmental, High-Throughput Nucleotide Sequencing, Cell Biology, Embryo, Mammalian, Phenotype, Heteroplasmy, Cell biology, Mitochondria, 030104 developmental biology, medicine.anatomical_structure, Germ Cells, chemistry, Mutation, Oocytes, Single-Cell Analysis, DNA, Germ cell
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3d2acd209787efba5c5caed420d5d7eTest
https://pubmed.ncbi.nlm.nih.gov/36522542Test -
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المؤلفون: Hubert J.M. Smeets, G. Van Camp, B.J.C. van den Bosch, A.M. Voets, Angela Pyle, Alexandra T.M. Hendrickx, Alphons P. M. Stassen, Patrick F. Chinnery, Debby M.E.I. Hellebrekers, E. Van Eyken, L. Van Laer, Simon Baudouin
المساهمون: Klinische Genetica, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction
المصدر: Mitochondrion
Mitochondrion, 11(6), 964-972. ELSEVIER SCI LTDمصطلحات موضوعية: Adult, Mitochondrial DNA, Adolescent, Distribution, Biology, DNA, Mitochondrial, Article, Conserved sequence, Young Adult, RNA, Transfer, Pathogenicity, Humans, Child, Molecular Biology, Gene, Conserved Sequence, Aged, Sequence (medicine), Genetics, mtDNA control region, Protein coding, chemistry.chemical_classification, Polymorphism, Genetic, MitoChip, Infant, Sequence Analysis, DNA, Cell Biology, Middle Aged, Amino acid, mtDNA variants, chemistry, Child, Preschool, Transfer RNA, Nucleic Acid Conformation, Molecular Medicine, Human medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bc27a5a5d87a8d2e1610ff13bb1c9aTest
https://doi.org/10.1016/j.mito.2011.09.003Test -
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المؤلفون: Hanns Lochmüller, Bertold Schrank, Rolf Stucka, Elke Holinski-Feder, Angela Abicht, Jürgen Seeger, Rita Horvath, Ulrich Lörcher, Solvig Müller-Ziermann, Angela Pyle, Birgit Czermin
المصدر: Neuromuscular Disorders. 20:720-724
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Respiratory Chain Deficiency, Cytochrome-c Oxidase Deficiency, Basal Ganglia, Electron Transport Complex IV, Sex Factors, Neuroimaging, Basal ganglia, Humans, Medicine, Cytochrome c oxidase, In patient, Child, Muscle, Skeletal, Gene, Genetics (clinical), Dystonia, biology, business.industry, Microfilament Proteins, medicine.disease, Magnetic Resonance Imaging, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Neurology (clinical), Leigh Disease, Cognition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da54c9114ff4f6bc4ba73660a0aaafaeTest
https://doi.org/10.1016/j.nmd.2010.06.017Test -
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المؤلفون: Helen Griffin, Rita Horvath, Aurora Gomez-Duran, Konstantinos Douroudis, Marina Bartsakoulia, Angela Pyle, Hanns Lochmüller, Tania Smertenko, Veronika Karcagi, Gail Eglon, Patrick Yu-Wai-Man, Veronika Boczonadi, Venkateswaran Ramesh, Jennifer Duff, Emma L. Blakely, Agnes Herczegfalvi, Mauro Santibanez-Koref, Robert W. Taylor, Patrick F. Chinnery, David Moore
المساهمون: Yu Wai Man, Patrick [0000-0001-7847-9320], Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, peripheral neuropathy, spastic paraplegia, Mitochondrial translation, business.industry, Nonsense mutation, ataxia, medicine.disease, mitochondrial translation, 3. Good health, Ophthalmoparesis, Peripheral neuropathy, Atrophy, Neurology, medicine, Behr’s syndrome, optic atrophy, Neurology (clinical), medicine.symptom, business, Gene, Exome sequencing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9569ea050f394dd1213ab9e339e71e63Test
https://www.repository.cam.ac.uk/handle/1810/290355Test