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1دورية أكاديمية
المؤلفون: Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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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
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3دورية أكاديمية
المؤلفون: Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
المصدر: Cell Genomics, Vol 3, Iss 2, Pp 100246- (2023)
مصطلحات موضوعية: genome analysis, exome analysis, data sharing, data visualization, federated infrastructures, remote data access, Genetics, QH426-470, Internal medicine, RC31-1245
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Jacques G. Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Laura Blasco-Pérez, Ida Paramonov, María Antolín, Andrea Martín-Nalda, Pere Soler-Palacín, Roger Colobran
المصدر: Frontiers in Immunology, Vol 11 (2020)
مصطلحات موضوعية: X-linked agammaglobulinemia (XLA), Bruton agammaglobulinemia, gonosomal mosaicism, genetic counseling, BTK mutation, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
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5
المؤلفون: María Antolín, Marta Codina-Solà, Teresa Vendrell, Paula Fernández-Álvarez, Ida Paramonov, Elena García-Arumí, Anna M. Cueto-González, Artur Evangelista, Irene Valenzuela, Eduardo F. Tizzano, Gisela Teixido-Tura, Fermina López-Grondona
المصدر: Journal of Medical Genetics. 59:605-612
مصطلحات موضوعية: Marfan syndrome, Genetics, medicine.diagnostic_test, Genetic counseling, Amplicon, Biology, medicine.disease, Deep sequencing, Germline, Somatic mosaicism, medicine, Gene, Genetics (clinical), Genetic testing
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6
المؤلفون: Eduardo F. Tizzano, Ivon Cuscó, Laura Blasco-Pérez, Sara Bernal, Jordi Leno, Ida Paramonov, Laura Alias, Pablo Fuentes-Prior
المصدر: Human Mutation
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: SMN2 copies, DNA Copy Number Variations, Genotype, DNA Mutational Analysis, phenotype–, Gene Dosage, genotype correlations, next‐generation sequencing, Phenotype-genotype correlations, Computational biology, Disease, SMN1, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, DNA sequencing, law.invention, Muscular Atrophy, Spinal, 03 medical and health sciences, law, generation sequencing, Genetics, medicine, Methods, paralogous variants, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Genetic Association Studies, 030304 developmental biology, phenotype–genotype correlations, spinal muscular atrophy, 0303 health sciences, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Spinal muscular atrophy, medicine.disease, SMA, Phenotype, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, next‐, Next-generation sequencing
وصف الملف: application/pdf
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7
المؤلفون: Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci
المساهمون: Houlden, Henry [0000-0002-2866-7777], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository
المصدر: Brain
مصطلحات موضوعية: Consanguinitat, Population, Medizin, Prevalence, Consanguinity, rate of consanguinity, Compound heterozygosity, DNA sequencing, whole exome sequencing, neurogenetic disease burden, Exome Sequencing, Medicine, Humans, Exome, education, Gene, Exome sequencing, Genetics, consanguineous families, education.field_of_study, business.industry, Homozygote, Pedigree, Phenotype, Cohort, Mutation, Neurology (clinical), Neurogenètica, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oai -
8
المؤلفون: Ignacio Iglesias Serrano, María Cols Roig, Rosanel Amaro-Rodríguez, Amparo Escribano, Marta Garrido-Pontnou, Mónica Fernández-Cancio, Esther Amengual Pieras, Eduardo F. Tizzano, Silvia Gartner, Carlos Martín de Vicente, Ana Reula, Francisco Dasí, Eva Polverino, M. Araceli Caballero-Rabasco, Inés de Mir Messa, María del Mar Martínez-Colls, Gerardo Vizmanos-Lamotte, Antonio Moreno-Galdó, Núria Camats-Tarruella, Elena García Arumí, Óscar Asensio de la Cruz, Silvia Castillo-Corullón, Miguel Armengot-Carceller, Noelia Baz-Redón, Ida Paramonov, Alba Torrent-Vernetta, María Antolín, Sandra Rovira-Amigo
المصدر: Archivos de Bronconeumología. 57:186-194
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, business.industry, Medicine, business, Humanities
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9
المؤلفون: Alba Torrent-Vernetta, Inés de Mir Messa, Silvia Castillo-Corullón, Sandra Rovira-Amigo, Amparo Escribano, Marta Garrido-Pontnou, Esther Amengual Pieras, Óscar Asensio de la Cruz, Ignacio Iglesias-Serrano, Noelia Baz-Redón, Mónica Fernández-Cancio, Eduardo F. Tizzano, Ana Reula, Rosanel Amaro-Rodríguez, Carlos Martín de Vicente, Silvia Gartner, Gerardo Vizmanos-Lamotte, Francisco Dasí, Eva Polverino, Núria Camats-Tarruella, María del Mar Martínez-Colls, Elena García-Arumí, Ida Paramonov, Antonio Moreno-Galdó, Miguel Armengot-Carceller, M. Araceli Caballero-Rabasco, María Antolín, Maria Cols-Roig
المصدر: Archivos de Bronconeumología (English Edition). 57:186-194
مصطلحات موضوعية: business.industry, General Medicine, medicine.disease, Compound heterozygosity, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Gene panel, Cohort, otorhinolaryngologic diseases, Medicine, Genetic diagnosis, business, Gene, Primary ciliary dyskinesia
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10
المؤلفون: Eduard Mogas, Laura Blasco-Pérez, María Antolín, Noelia Baz-Redón, Núria Camats, Mónica Fernández-Cancio, Nadya Jaimes, Maria Grazia Clemente, Elena García-Arumí, Diego Yeste, Laura Soler-Colomer, Ariadna Campos-Martorell, Ida Paramonov
المصدر: The Journal of Clinical Endocrinology & Metabolism. 106:e152-e170
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Thyroid Gland, Thyroid Function Tests, Biochemistry, PAX8 Transcription Factor, Neonatal Screening, Endocrinology, Thyroid dyshormonogenesis, Internal medicine, Congenital Hypothyroidism, Humans, Medicine, Child, Gene, business.industry, Biochemistry (medical), Thyroid, Infant, Newborn, Wild type, Infant, medicine.disease, Phenotype, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Biological Variation, Population, Mutation, Hereditary Diseases, Female, PAX8, business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb41aefc5b3feaa814f7bd04f4a99c22
https://doi.org/10.1210/clinem/dgaa711