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1دورية أكاديمية
المؤلفون: Alexander German, Jelena Jukic, Andreas Laner, Philipp Arnold, Eileen Socher, Angelika Mennecke, Manuel A. Schmidt, Jürgen Winkler, Angela Abicht, Martin Regensburger
المصدر: Genes, Vol 15, Iss 1, p 14 (2023)
مصطلحات موضوعية: hereditary spastic paraplegia, SPG35, FA2H, FAHN, genetic variant modeling, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000180Test; https://doaj.org/toc/2666-2477Test
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3دورية أكاديمية
المؤلفون: Ariane Hallermayr, Teresa M. Neuhann, Verena Steinke-Lange, Florentine Scharf, Andreas Laner, Roland Ewald, Ben Liesfeld, Elke Holinski-Feder, Julia M. A. Pickl
المصدر: Frontiers in Oncology, Vol 12 (2022)
مصطلحات موضوعية: liquid biopsy, tissue biopsy, circulating tumor DNA, analytical validation, Duplex sequencing, cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2022.1014592/fullTest; https://doaj.org/toc/2234-943XTest
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4دورية أكاديمية
المؤلفون: Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder, Isabel Diebold
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Sudden unexplained death, Molecular autopsy, HPO, Variant interpretation, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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5دورية أكاديمية
المؤلفون: Bryony A. Thompson, Rhiannon Walters, Michael T. Parsons, Troy Dumenil, Mark Drost, Yvonne Tiersma, Noralane M. Lindor, Sean V. Tavtigian, Niels de Wind, Amanda B. Spurdle, the InSiGHT Variant Interpretation Committee, Fahd Al-Mulla, Daniel Buchanan, Susan Farrington, Ian Frayling, Maurizio Genuardi, Elke Holinski-Feder, Maija R. J. Kohonen-Corish, Andreas Laner, Alexandra Martins, Finlay Macrae, Pål Møller, Monika Morak, Elisabet Ognedal, John-Paul Plazzer, Lene Juel Rasmussen, Carli Tops
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: mismatch repair genes, splicing aberrations, variant interpretation and classification, variant type, Lynch syndrome, mRNA splicing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00798/fullTest; https://doaj.org/toc/1664-8021Test
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6دورية أكاديمية
المؤلفون: Elisa Calì, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Faqeih, Emilia K. Bijlsma, Kristen Wigby, Diana Baralle, Mohammad Yahya Vahidi Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn C. Jones, Dmitriy Niyazov, Jennifer Jacober, Rebecca O. Littlejohn, Denisa Weis, Neda Zadeh, Lance H. Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra‐Clarke, Gabriella Horváth, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto‐van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya Ebrahimi Nasab, A. Gulhan Ercan‐Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stéphanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada M.H. Abdel‐Salam, Megan Li, Mario Bengala, Amelie J. Müller, María Cristina Digilio
مصطلحات موضوعية: Protein Arginine Methylation in Mammals, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Epigenetic Modifications and Their Functional Implications, Protein Arginine Methyltransferases, Brachydactyly, Short stature, Autism spectrum disorder, Hypotonia, Global developmental delay, Neurodevelopmental disorder, Intellectual disability, Craniofacial, Craniofacial abnormality, Medicine, Genetics, FOS Biological sciences, Pediatrics, Psychology, FOS Psychology, Phenotype, Autism, Biology, Psychiatry, Gene
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المؤلفون: Jan Henkel, Andreas Laner, Melanie Locher, Tobias Wohlfrom, Birgit Neitzel, Kerstin Becker, Teresa Neuhann, Angela Abicht, Verena Steinke-Lange, Elke Holinski-Feder
المصدر: European Journal of Human Genetics.
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::68d57d800bda26e09d18d49298adfdfcTest
https://doi.org/10.1038/s41431-023-01380-2Test -
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المؤلفون: Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML non-thematic output, Institut Català de la Salut, [Cali E] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. [Suri M] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, City Hospital Campus, Nottingham, United Kingdom. [Scala M] Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [Ferla MP] Genomic Medicine theme, Oxford Biomedical Research Centre, NIHR, Oxford, Oxfordshire, United Kingdom. Wellcome Centre for Human Genetics, Oxford University, Oxford, Oxfordshire, United Kingdom. [Alavi S] Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran. Palindrome, Isfahan, Iran. [Faqeih EA] Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical, City, Riyadh, Saudi Arabia. [Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d'Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Genetics in Medicine, 25(1), 135-142. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 135-142
Scientia
Genetics in Medicine, 25, 135-142مصطلحات موضوعية: Neurobiologia del desenvolupament, Discapacitat intel·lectual - Aspectes genètics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Otros calificadores::Otros calificadores::/genética [Otros calificadores], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enanismo [ENFERMEDADES], trastornos mentales::trastornos del desarrollo neurológico [PSIQUIATRÍA Y PSICOLOGÍA], Nanisme, Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [DISEASES], All institutes and research themes of the Radboud University Medical Center, Other subheadings::Other subheadings::/genetics [Other subheadings], Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism [DISEASES], enfermedades del sistema nervioso::manifestaciones neurológicas::manifestaciones neuroconductuales::discapacidad intelectual [ENFERMEDADES], Genetics (clinical), Mental Disorders::Neurodevelopmental Disorders [PSYCHIATRY AND PSYCHOLOGY]
وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceace68f22e9fddfec1c6fe140b0167Test
https://cris.maastrichtuniversity.nl/en/publications/81d27084-ec1f-4ef6-a38c-5c73866a5a8eTest -
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المؤلفون: Anna Benet-Pagès, Stephanie Kleinle, Oliver Peschel, Andreas Laner, Ulrike Schön, Anna Holzer, Elke Holinski-Feder, Florentine Scharf, Isabel Diebold
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
BMC Medical Genomicsمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Internal medicine, lcsh:QH426-470, Computational biology, 030204 cardiovascular system & hematology, Biology, Sudden unexplained death, 03 medical and health sciences, Annotation, 0302 clinical medicine, Molecular autopsy, Human Phenotype Ontology, Exome Sequencing, Genetics, Humans, Exome, lcsh:RC31-1245, Gene, Genetics (clinical), Exome sequencing, Variant interpretation, Whole exome sequencing, Computational Biology, Human genetics, ddc, lcsh:Genetics, 030104 developmental biology, Phenotype, Technical Advance, Autopsy, HPO, DNA microarray
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0312665bed7c16bfa9405c4d8b6c161Test
https://doaj.org/article/08a11a22f2ea42599a42a39be34627aaTest -
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المؤلفون: Ariane Hallermayr (6004439), Teresa M. Neuhann (14303942), Verena Steinke-Lange (8886347), Florentine Scharf (13629079), Andreas Laner (14303945), Roland Ewald (547381), Ben Liesfeld (14303948), Elke Holinski-Feder (9479), Julia M. A. Pickl (13629091)
مصطلحات موضوعية: Cancer, Cancer Cell Biology, Cancer Diagnosis, Cancer Genetics, Cancer Therapy (excl. Chemotherapy and Radiation Therapy), Chemotherapy, Haematological Tumours, Molecular Targets, Radiation Therapy, Solid Tumours, Oncology and Carcinogenesis not elsewhere classified, liquid biopsy, tissue biopsy, circulating tumor DNA, analytical validation, Duplex sequencing, asymmetric overgrowth syndrome