المؤلفون: Eric Olinger, Ian J. Wilson, Sarah Orr, Miguel Barroso-Gil, Ruxandra Neatu, Denize Atan, John A. Sayer, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101834- (2024)

مصطلحات موضوعية: CNV analysis, Genome sequencing, NPHP1, Retinopathy, SLC66A1, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424009804; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/428632089e9d4e95b7ebde0ffccbd212

المؤلفون: Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord

المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/dfdeeb798f424c30af5b1c761fbdb704

المؤلفون: Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/97934482d6eb4ef4a62a77b65cc8aafa

المؤلفون: Samar Yahya, Claire E.L. Smith, James A. Poulter, Martin McKibbin, Gavin Arno, Jamie Ellingford, Kati Kämpjärvi, Muhammad I. Khan, Frans P.M. Cremers, Alison J. Hardcastle, Bruce Castle, David H.W. Steel, Andrew R. Webster, Graeme C. Black, Mohammed E. El-Asrag, Manir Ali, Carmel Toomes, Chris F. Inglehearn, Stuart Ingram, Rachel Taylor, Forbes Manson, Panagiotis Sergouniotis, Nikolas Pontikos, Michael Cheetham, Alessia Fiorentino, Susan Downes, Jing Yu, Stephanie Halford, Suzanne Broadgate, Veronica van Heyningen, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المصدر: Ophthalmology, 130, 68-76
Ophthalmology, 130, 1, pp. 68-76

مصطلحات موضوعية: Ophthalmology, All institutes and research themes of the Radboud University Medical Center, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507827933b913ead226b13ff8c186891
https://doi.org/10.1016/j.ophtha.2022.07.023

المؤلفون: Uwe Kornak, Namrata Saha, Boris Keren, Alexander Neumann, Ana Lisa Taylor Tavares, Juliette Piard, Johannes Kopp, João Guilherme Rodrigues Alves, Miguel Rodríguez de los Santos, Naji El Choubassi, Nadja Ehmke, Marten Jäger, Malte Spielmann, Jean Tori Pantel, Elodie Lejeune, Beatrix Fauler, Thorsten Mielke, Jochen Hecht, David Meierhofer, Tim M. Strom, Vincent Laugel, Alexis Brice, Stefan Mundlos, Aida Bertoli-Avella, Peter Bauer, Florian Heyd, Odile Boute, Juliette Dupont, Christel Depienne, Lionel Van Maldergem, Björn Fischer-Zirnsak

المصدر: Genetics in Medicine. 24:1927-1940

مصطلحات موضوعية: Alternative Splicing, Lipodystrophy, Developmental Disabilities, RNA Splicing, Medizin, Humans, RNA-Binding Proteins, Child, Introns, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a757c26002f39f2be33630ad4c51a8dc
https://doi.org/10.1016/j.gim.2022.05.004

المؤلفون: Eleanor G. Seaby, Damian Smedley, Ana Lisa Taylor Tavares, Helen Brittain, Richard H. van Jaarsveld, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis

المصدر: Genetics in Medicine. 24:1697-1707

مصطلحات موضوعية: Genetics (clinical)

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd63d2968f40c6f9c34746776cefa97b
https://doi.org/10.1016/j.gim.2022.04.019

المؤلفون: Alistair T. Pagnamenta, Jing Yu, Tracey A. Willis, Mona Hashim, Eleanor G. Seaby, Susan Walker, Jiaqi Xian, Emily W. Y. Cheng, Ana Lisa Taylor Tavares, Francesca Forzano, Helen Cox, Tabib Dabir, Angela F. Brady, Neeti Ghali, Santosh S. Atanur, Sarah Ennis, Diana Baralle, Jenny C. Taylor

المصدر: Human Mutation.

مصطلحات موضوعية: Article Subject, Genetics, Genetics (clinical)

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50c7c294cd6eff81fa8e159a6199e577

المؤلفون: Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls

المصدر: Am J Hum Genet

مصطلحات موضوعية: Consensus, Computer science, Process (engineering), MEDLINE, Gene Expression, Harmonization, Terminology, Terminology as Topic, Gene panel, Genetics, Humans, Data Curation, Genetics (clinical), Australia, Genetic Diseases, Inborn, Molecular Sequence Annotation, Genomics, Resolution (logic), Mobile Applications, Data science, United Kingdom, Identification (information), Gene Ontology, Scale (social sciences), Perspective, Delivery of Health Care, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a7bb1d7c13503703eaacf84893bd36
https://doi.org/10.1016/j.ajhg.2021.06.020

المؤلفون: Eleanor G, Seaby, N Simon, Thomas, Amy, Webb, Helen, Brittain, Ana Lisa, Taylor Tavares, Diana, Baralle, Heidi L, Rehm, Anne, O'Donnell-Luria, S M, Wood

المصدر: Human genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::12e04b63966f501f762d9ac8b8d8ef01
https://pubmed.ncbi.nlm.nih.gov/36477409

المؤلفون: Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, Henrietta Lefroy, Bruce Castle, Linda M. Reis, Elena V. Semina, Katherine Lachlan, Kate Chandler, Thomas Wright, Jill Clayton-Smith, Franziska Phan Hug, Nelly Pitteloud, Lucia Bartoloni, Sabine Hoffjan, Soo-Mi Park, Ajay Thankamony, Melissa Lees, Emma Wakeling, Swati Naik, Britta Hanker, Katta M. Girisha, Emanuele Agolini, Zampino Giuseppe, Ziegler Alban, Marine Tessarech, Boris Keren, Alexandra Afenjar, Christiane Zweier, Andre Reis, Thomas Smol, Yoshinori Tsurusaki, Okamoto Nobuhiko, Futoshi Sekiguchi, Naomi Tsuchida, Naomichi Matsumoto, Ikuyo Kou, Yoshiro Yonezawa, Shiro Ikegawa, Bert Callewaert, Megan Freeth, Lotte Kleinendorst, Alan Donaldson, Marielle Alders, Anne De Paepe, Bekim Sadikovic, Alisdair McNeill, Deborah Nickerson, Michael Bamshad, Suzanne Leal, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Freya Boardman-Pretty, Christopher R. Boustred, Helen Brittain, Mark J. Caulfield, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, null FionaMaleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, null TahrimaRahim, Augusto Rendon, null TimRogers, Kevin Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood

المساهمون: Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis

المصدر: Genetics in medicine, 24(6), 1261-1273. Lippincott Williams and Wilkins
GENETICS IN MEDICINE
Genet Med

مصطلحات موضوعية: EXPRESSION, MUTATIONS, FEATURES, Hypogonadism, disorder, DNA Methylation, Genome sequencing, Methylation, Article, SOXC Transcription Factors, Klinefelter Syndrome, Phenotype, Neurodevelopmental disorder, Neurodevelopmental Disorders, Exome Sequencing, SOX11, Medicine and Health Sciences, Neurodevelopmental, Humans, Exome, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b0e320e882cf61f6d36ec60d62c1a

المؤلفون: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki

المصدر: WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2

مصطلحات موضوعية: Fragile X Mental Retardation Protein, DNA Repeat Expansion, Whole Genome Sequencing, Whole Genome Sequencing/methods, Humans, Neurology (clinical), Prospective Studies, Child, Fragile X Mental Retardation Protein/genetics, State Medicine, United Kingdom, Retrospective Studies

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924d
https://eprints.soton.ac.uk/455528/

المؤلفون: null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, business, Truncus arteriosus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1

المؤلفون: Zerin Hyder, Eduardo Calpena, Yang Pei, Rebecca S. Tooze, Helen Brittain, Stephen R.F. Twigg, Deirdre Cilliers, Jenny E.V. Morton, Emma McCann, Astrid Weber, Louise C. Wilson, Andrew G.L. Douglas, Ruth McGowan, Anna Need, Andrew Bond, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Christopher R. Boustred, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Susan L. Hill, Zandra C. Deans, Freya Boardman-Pretty, Mark Caulfield, Richard H. Scott, Andrew O.M. Wilkie

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Proband, medicine.diagnostic_test, Base Sequence, business.industry, Chromosome Mapping, Genomics, Disease, Bioinformatics, medicine.disease, Genome, DNA sequencing, Article, Craniosynostosis, Craniosynostoses, Rare Diseases, medicine, Humans, Genetic Testing, Medical diagnosis, business, Genetics (clinical), Genetic testing

وصف الملف: archive

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9eed5d7ca7a0485c39fbde57ad0b2d7
https://doi.org/10.1038/s41436-021-01297-5

المؤلفون: Isabel Almeida, Divi Cornec, Torsten Witte, Tania F. Rowley, Tianlu Li, Elena Carnero-Montoro, Mariana Brandão, Antonio Garcia-Gomez, Nancy Azevedo, Esmeralda Neves, Ana Lisa Taylor Tavares, Ana Campar, Jacques-Olivier Pers, Nicolas Hunzelmann, Ellen De Langhe, Ernst R. Dow, Magdolna Deák, Jorge Kageyama, Francisco Javier Garrancho, Gerard Espinosa, Carlo Chizzolini, Laleh Khodadadi, Falk Hiepe, Maria Angeles Aguirre-Zamorano, Marta E. Alarcón-Riquelme, Rosario Lopez-Pedrera, Anne Buttgereit, Ricard Cervera, Javier Rodríguez-Ubreva, Fernanda Genre, Jerome Wojcik, Begoña Ubilla Garcia, Héctor Navarro-Linares, Maria Orietta Borghi, N.T. Baerlecken, Katja Kniesch, Yolanda Jiménez Gómez, Zuzanna Makowska, Martin Kerick, Elena Trombetta, Pierre-Emmanuel Jouve, Lorenzo Beretta, Ricardo Blanco Alonso, Bénédicte Rouvière, Isabel Díaz Quintero, Michael Zauner, Ralf Lesche, Daniel Toro-Domínguez, Manuel Rodriguez Maresca, Attila Balog, Pier Luigi Meroni, Qingyu Cheng, Georg Stummvoll, Johan Frostegård, Javier Martín, Márta Bocskai, Joerg Mueller, Tommaso Schioppo, Chris Chamberlain, Sonja Dulic, László Kovács, Raquel López Mejías, Velia Gerl, Francesc Català-Moll, Robert J. Benschop, Sara Remuzgo, Carolina Artusi, María Teruel, Eduardo Collantes-Estevez, Miguel A. González-Gay, Silvia Thiel, Bernard Lauwerys, Maria Gerosa, Yves Renaudineau, Pedro Carmona-Sáez, Raquel Faria, Rocío Aguilar-Quesada, Sepideh Babaei, Nuria Barbarroja, Maria Hernandez-Fuentes, María Concepción Fernández Roldán, Sambasiva P. Rao, Aurélie De Groof, Montserrat Alvarez, Anne-Lise Maudoux, Sikander Hayat, Guillermo Barturen, Maria Juarez, Damiana Álvarez-Errico, Alfonso Corrales Martínez, Julie Ducreux, Lucas Le Lann, Norberto Ortego, Jacqueline Marovac, Sandrine Jousse-Joulin, Enrique Raya, Laurence Laigle, Concepción Marañón, Esteban Ballestar, Manuel Martínez-Bueno, Barbara Vigone, Rik Lories, Doreen Belz, Gabriella Kádár, Gaia Montanelli, Fátima Farinha, Divya Thiagaran, M.C. Castro-Villegas, Christophe Jamin, Alain Saraux, Carlos Vasconcelos, Emanuele de Rinaldis, Donatienne Wynar, Enrique de Ramón, Antonio López-Berrio, Tania Anjos, Alejandro Escudero-Contreras, Ian White, Valérie Devauchelle-Pensec, Ignasi Rodríguez-Pintó, Nieves Varela, Quentin Simon, Michaela Lehner, Inmaculada Jiménez Moleón, Aleksandra Maria Dufour, Rafaela Ortega-Castro, Marialbert Acosta-Herrera, Mcdonald Fiona Mcdougall, Yiannis Ioannou, Jonathan Cremer, António Marinho, Jordi Martorell-Marugán

المساهمون: Centre for Genomics and Oncological Research (GENYO) Pfizer, University of Granada, Pharmaceuticals Division Bayer Pharma Aktiengesellschaft, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), University of Barcelona, Centro de Genomica e Investigacion Oncologica (GENYO), Department of Bioinformatics, Center for Genomics and Oncological Research (GENYO), Granada, Spain, Institute of Parasitology and Biomedicine (IPB - GRANADA), Spanish National Research Council (CSIC), LabEX IGO Immunothérapie Grand Ouest, Lymphocyte B et Auto-immunité (LBAI), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), UCB Pharma, Slough SL1 3WE, United Kingdom, Centre for Genomics and Oncological Reearch (GENYO), Andalusian Public Health System Biobank, Granada, Spain, Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Universidade do Porto, Servico de Immunologica EX-CICAP, Servico de Imunologica EX-CICAP, Unidade de Imunologia Clínica, Centro Hospitalar do Porto, Portugal, Istituto Clinico Humanitas [Milan] (IRCCS Milan), Humanitas University [Milan] (Hunimed), Scleroderma Unit, Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Istituto Nazionale Tumori - National Cancer Institute [Milan], Bellvitge Biomedical Research Institute IDIBELL [Barcelona, Spain], Karolinska Institutet [Stockholm], Universidad de Cantabria [Santander], Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Klinikum Leverkusen Teaching Hospital of the University of Cologne, Hannover Medical School [Hannover] (MHH), Medical University of Vienna, Vienna, Austria, Medical University of Vienna, General Hospital of Vienna, Hospital Reina Sofía, Hospital Regional Universitario de Málaga [Spain], Hospital Universitario San Cecilio, Hospital Universitario Virgen de las Nieves, Università degli Studi di Milano [Milano] (UNIMI), Université Catholique de Louvain = Catholic University of Louvain (UCL), AltraBio [Lyon], Geneva University Hospital (HUG), University of Szeged [Szeged], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Sanofi [Cambridge, MA, USA], Sanofi Genzyme, Eli Lilly, Indianapolis, USA, UCB Celltech [Slough, UK], Institut de Recherches Internationales Servier [Suresnes] (IRIS), Quartzbio, Geneva, Instituto de Parasitología y Biomedicina 'López-Neyra', Fondazione IRCCS Ca’ Granda – Ospedale Maggiore Policlinico [Milan, Italy], Bellvitge Institute for Biomedical Research, Bayer HealthCare, Berlin, Centre for Genomics and Oncological Research Pfizer [Granada, Spain], University of Granada [Granada]-Andalusian Regional Government [Granada, Spain], Michel, Geneviève, Universidad de Granada = University of Granada (UGR), Nantes Université (Nantes Univ), Lymphocytes B, Autoimmunité et Immunothérapies (LBAI), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-LabEX IGO Immunothérapie Grand Ouest, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Universidade do Porto = University of Porto, University of Cologne, Hospital Regional Universitario de Málaga = Regional University Hospital of Malaga [Spain], Università degli Studi di Milano = University of Milan (UNIMI), Universidad de Granada = University of Granada (UGR)-Andalusian Regional Government [Granada, Spain], UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie

المصدر: Arthritis and Rheumatism
Arthritis and Rheumatism, Wiley, 2020, ⟨10.1002/art.41610⟩
Arthritis and Rheumatism, 2020, ⟨10.1002/art.41610⟩
Arthritis & rheumatology, Vol. 73, no.6, p. 1073-1085 (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Epigenomics, Male, [SDV.IMM] Life Sciences [q-bio]/Immunology, Cross-sectional study, Immunology, Arthritis, Bioinformatics, Scleroderma, Autoimmune Diseases, Transcriptome, Arthritis, Rheumatoid, 03 medical and health sciences, Epigenome, 0302 clinical medicine, Rheumatology, medicine, Immunology and Allergy, Cluster Analysis, Humans, Lupus Erythematosus, Systemic, Undifferentiated Connective Tissue Diseases, Aged, Mixed Connective Tissue Disease, 030203 arthritis & rheumatology, Inflammation, Science & Technology, Lupus erythematosus, Scleroderma, Systemic, business.industry, Gene Expression Profiling, Case-control study, Middle Aged, medicine.disease, Antiphospholipid Syndrome, 3. Good health, Clinical trial, Gene expression profiling, 030104 developmental biology, Cross-Sectional Studies, Sjogren's Syndrome, Case-Control Studies, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Interferons, business, Life Sciences & Biomedicine

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1563952d4b64a5f243c20fd857065753
https://hdl.handle.net/10668/17043

المؤلفون: Aida M. Bertoli-Avella, José Pedro Vieira, Ana Berta Sousa, Juliette Dupont, Ana Lisa Taylor Tavares, Carla Conceição, Suliman Khan

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Aplasia/Hypoplasia, Developmental Disabilities, Hearing Loss, Sensorineural, Keratoconjunctivitis, Dwarfism, Nerve Tissue Proteins, HDE NEU PED, Congenital cranial dysinnervation disorder, Vestibulo-cochlear nerve aplasia, 030105 genetics & heredity, 03 medical and health sciences, Intellectual Disability, NEUROG1, Oromotor dysfunction, Basic Helix-Loop-Helix Transcription Factors, Genetics, medicine, Humans, Missense mutation, Trigeminal Nerve, Corneal reflex, Child, Cochlear Nerve, Genetics (clinical), Loss function, business.industry, Cranial nerves, Sensorineural deafness, medicine.disease, Hypoplasia, Hypotonia, 030104 developmental biology, Neurodevelopmental Disorders, HDE NRAD, Atresia, Muscle Hypotonia, Sensorineural hearing loss, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1917920b05803f89457674d8a524a2e9

المؤلفون: Aida M. Bertoli-Avella, Suliman Khan, Ana Lisa Taylor Tavares, Carla Conceição, Ana Berta Sousa, Juliette Dupont, José Pedro Vieira

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2dc72e321ebcc586a4a088798edc54d6
https://doi.org/10.1111/cge.13922/v2/response1

المؤلفون: Carlo Chizzolini, Yolanda Jiménez Gómez, Pier Luigi Meroni, M.C. Castro-Villegas, Ralf Lesche, Fernanda Genre, Javier Martín, Raquel Faria, Márta Bocskai, Tommaso Schioppo, Emanuele de Rinaldis, Divi Cornec, Torsten Witte, Pierre-Emmanuel Jouve, Sikander Hayat, Johan Frostegård, Guillermo Barturen, Christophe Jamin, Laleh Khodadadi, Alfonso Corrales Martínez, Quentin Simon, Mariana Brandão, Chris Chamberlain, Alain Saraux, Javier Rodríguez-Ubreva, Francesc Català-Moll, Michaela Lehner, Ricard Cervera, Tania F. Rowley, Tianlu Li, Attila Balog, Enrique de Ramón, Maria Angeles Aguirre-Zamorano, Elena Carnero-Montoro, Rafaela Ortega-Castro, László Kovács, Velia Gerl, Carolina Artusi, Nancy Azevedo, Martin Kerick, Antonio López-Berrio, Esmeralda Neves, Anne-Lise Maudoux, Bénédicte Rouvière, Bernard Lauwerys, Maria Gerosa, Yiannis Ioannou, Fátima Farinha, Ian White, Tania Anjos, Sepideh Babaei, N.T. Baerlecken, Katja Kniesch, Jonathan Cremer, Joerg Mueller, Julie Ducreux, Lucas Le Lann, Norberto Ortego, Jerome Wojcik, Marialbert Acosta-Herrera, Maria Hernandez-Fuentes, Héctor Navarro-Linares, Maria Orietta Borghi, Inmaculada Jiménez Moleón, António Marinho, Rocío Aguilar-Quesada, Enrique Raya, Falk Hiepe, Raquel López Mejías, Mcdonald Fiona Mcdougall, Robert J. Benschop, Georg Stummvoll, Isabel Díaz Quintero, Esteban Ballestar, Aleksandra Maria Dufour, Jordi Martorell-Marugán, Elena Trombetta, Manuel Rodriguez Maresca, Miguel A. González-Gay, Valérie Devauchelle-Pensec, Maria Juarez, Carlos Vasconcelos, Doreen Belz, Yves Renaudineau, Donatienne Wynar, Jacqueline Marovac, Aurélie De Groof, Sandrine Jousse-Joulin, Alejandro Escudero-Contreras, Laurence Laigle, Ignasi Rodríguez-Pintó, Zuzanna Makowska, Isabel Almeida, Lorenzo Beretta, Damiana Álvarez-Errico, Nieves Varela, Montserrat Alvarez, Concepción Marañón, Ricardo Blanco Alonso, Daniel Toro-Domínguez, Ana Campar, Manuel Martínez-Bueno, Barbara Vigone, Francisco Javier Garrancho, Rik Lories, Gabriella Kádár, Michael Zauner, Silvia Thiel, Pedro Carmona-Sáez, María Concepción Fernández Roldán, Magdolna Deák, Marta E. Alarcón-Riquelme, Rosario Lopez-Pedrera, Qingyu Cheng, Sonja Dulic, Sara Remuzgo, Ana Lisa Taylor Tavares, Gerard Espinosa, Gaia Montanelli, Nuria Barbarroja, Sambasiva P. Rao, Eduardo Collantes-Estevez, Anne Buttgereit, Begoña Ubilla Garcia, Ernst R. Dow, Jorge Kageyama, Antonio Garcia-Gomez, Jacques-Olivier Pers, Nicolas Hunzelmann, Ellen De Langhe

المصدر: Oral presentations.

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Disease clusters, business.industry, Disease progression, INCEPTION COHORT, Internal medicine, T cell immunity, medicine, Effective treatment, Christian ministry, Medical diagnosis, business, Unsupervised clustering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d7e4af04a47bfff7031b1c774b48c3ec
https://doi.org/10.1136/lupus-2020-eurolupus.42

المؤلفون: Jacqueline Marovac, Sandrine Jousse-Joulin, Magdolna Deák, Marta E. Alarcón-Riquelme, Laurence Laigle, Tania F. Rowley, Rosario Lopez-Pedrera, Inmaculada Jiménez Moleón, Tianlu Li, Héctor Navarro-Linares, Maria Orietta Borghi, Concepción Marañón, Michael Zauner, Mariana Brandão, Elena Carnero-Montoro, Quentin Simon, Aleksandra Maria Dufour, Antonio López-Berrio, Isabel Díaz Quintero, Nancy Azevedo, Maria Juarez, Esmeralda Neves, Maria Angeles Aguirre-Zamorano, Qingyu Cheng, Ian White, Michaela Lehner, Ernst R. Dow, Manuel Martínez-Bueno, Pier Luigi Meroni, Falk Hiepe, Alejandro Escudero-Contreras, Barbara Vigone, Yolanda Jiménez Gómez, Rik Lories, Jacques-Olivier Pers, Ralf Lesche, Ana Campar, Ellen De Langhe, Bénédicte Rouvière, Rafaela Ortega-Castro, Raquel Faria, Nuria Barbarroja, Jorge Kageyama, Sambasiva P. Rao, Ignasi Rodríguez-Pintó, M.C. Castro-Villegas, Julie Ducreux, Lucas Le Lann, Raquel López Mejías, Tania Anjos, Gabriella Kádár, Robert J. Benschop, Sonja Dulic, Norberto Ortego, Enrique Raya, Laleh Khodadadi, Elena Trombetta, Francisco Javier Garrancho, Pierre-Emmanuel Jouve, Manuel Rodriguez Maresca, Javier Rodríguez-Ubreva, Antonio Garcia-Gomez, Nieves Varela, Sara Remuzgo, Christophe Jamin, Fátima Farinha, Alain Saraux, Johan Frostegård, Carlos Vasconcelos, Anne Buttgereit, Alfonso Corrales Martínez, Isabel Almeida, Carolina Artusi, Nicolas Hunzelmann, Begoña Ubilla Garcia, László Kovács, Velia Gerl, Enrique de Ramón, Emanuele de Rinaldis, Donatienne Wynar, N.T. Baerlecken, Katja Kniesch, Damiana Álvarez-Errico, Yiannis Ioannou, Jonathan Cremer, Jerome Wojcik, Esteban Ballestar, Silvia Thiel, Daniel Toro-Domínguez, Joerg Mueller, António Marinho, Zuzanna Makowska, Pedro Carmona-Sáez, Lorenzo Beretta, Ricardo Blanco Alonso, María Teruel, Bernard Lauwerys, Eduardo Collantes-Estevez, Anne-Lise Maudoux, Georg Stummvoll, Maria Gerosa, Miguel A. González-Gay, María Concepción Fernández Roldán, Doreen Belz, Sepideh Babaei, Chris Chamberlain, Yves Renaudineau, Maria Hernandez-Fuentes, Francesc Català-Moll, Rocío Aguilar-Quesada, Aurélie De Groof, Montserrat Alvarez, Sikander Hayat, Guillermo Barturen, Jordi Martorell-Marugán, Attila Balog, Valérie Devauchelle-Pensec, Martin Kerick, Marialbert Acosta-Herrera, Mcdonald Fiona Mcdougall, Divi Cornec, Torsten Witte, Ricard Cervera, Javier Martín, Carlo Chizzolini, Márta Bocskai, Tommaso Schioppo, Fernanda Genre, Gaia Montanelli, Ana Lisa Taylor Tavares, Gerard Espinosa

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Molecular Disease, INCEPTION COHORT, Clinical trial, Transcriptome, Internal medicine, Clinical heterogeneity, Medicine, Effective treatment, Medical diagnosis, business, Unsupervised clustering

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3d16e1a1ce00465ca5da7902524f1f
https://doi.org/10.1101/2020.02.21.20021618

المؤلفون: Julien Thevenon, Christiane Zweier, Hilde Olivié, Nicole Revencu, Aurélia Jacquette, Megan T. Cho, Anne-Laure Mosca-Boidron, Marjolein H. Willemsen, Laurence Faivre, Yannis Duffourd, Odile Boute-Benejean, Elaine H. Zackai, Carey McDougall, Amber Begtrup, Anita Rauch, Christel Thauvin-Robinet, Perrine Charles, Koen L.I. van Gassen, Thomas Smol, Laurence Duplomb-Jego, Daphné Lehalle, Amanda Clarkson, Orrin Devinsky, Catherine Vincent-Delorme, Paul Kuentz, Bénédicte Gérard, Patrick Callier, Karol Rubin, Jean-Baptiste Rivière, Sébastien Moutton, Deborah J. Shears, Ana Lisa Taylor Tavares, Ingrid Simonic, Paulien A. Terhal, Soo-Mi Park, Alice Masurel-Paulet, Golder N. Wilson

المصدر: Journal of Medical Genetics, 54(7), 479. BMJ Publishing Group
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, Cohesin complex, Point mutation, Biology, medicine.disease, medicine.disease_cause, Bioinformatics, Frameshift mutation, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Intellectual disability, medicine, Journal Article, Missense mutation, Gene, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba5cad3096599dd155c640e3d772d43b
https://doi.org/10.1136/jmedgenet-2016-104468

المؤلفون: Sarju G. Mehta, Siddharth Banka, John Tolmie, Bronwyn Kerr, Emma Howard, Dian Donnai, Katherine Lachlan, Sancha Bunstone, Kate Chandler, Shane McKee, Ana Lisa Taylor Tavares

المصدر: Clinical Genetics. 83:467-471

مصطلحات موضوعية: Sanger sequencing, Genetics, Mutation, Point mutation, Disease, Biology, medicine.disease_cause, Bioinformatics, medicine.disease, Phenotype, symbols.namesake, Gene duplication, Genotype, medicine, symbols, Kabuki syndrome, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05621f235101828c33a601681a5e2a56
https://doi.org/10.1111/j.1399-0004.2012.01955.x