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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, 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
المساهمون: Jackson, A., Lin, S. -J., Jones, E. A., Chandler, K. E., Orr, D., Moss, C., Haider, Z., Ryan, G., Holden, S., Harrison, M., Burrows, N., Jones, W. D., Loveless, M., Petree, C., Stewart, H., Low, K., Donnelly, D., Lovell, S., Drosou, K., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Brown, M. A., Caulfield, M. J., Chan, G. C., Giess, A., Griffin, J. N., Hamblin, A., Henderson, S., Hubbard, T. J. P., Jackson, R., Jones, L. J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S. E. A., Leong, I. U. S., Lopez, F. J., Maleady-Crowe, F., Mcentagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A. C., O'Donovan, P., Odhams, C. A., Patch, C., Perez-Gil, D., Pereira, M. B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R. H., Siddiq, A., Sieghart, A., Smith, S. C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A. L., Thomas, E. R. A., Thompson, S. R., Tucci, A., Welland, M. J., Williams, E., Witkowska, K., Wood, S. M., Zarowiecki, M., Riess, O., Haack, T. B., Graessner, H., Zurek, B., Ellwanger, K., Ossowski, S., Demidov, G., Sturm, M., Schulze-Hentrich, J. M., Schule, R., Kessler, C., Wayand, M., Synofzik, M., Wilke, C., Traschutz, A., Schols, L., Hengel, H., Heutink, P., Brunner, H., Scheffer, H., Hoogerbrugge, N., Hoischen, A., 't Hoen, P. A. C., Vissers, L. E. L. M., Gilissen, C., Steyaert, W., Sablauskas, K., de Voer, R. M., Kamsteeg, E. -J., van de Warrenburg, B., van Os, N., Paske, I. T., Janssen, E., de Boer, E., Steehouwer, M., Yaldiz, B., Kleefstra, T., Brookes, A. J., Veal, C., Gibson, S., Wadsley, M., Mehtarizadeh, M., Riaz, U., Warren, G., Dizjikan, F. Y., Shorter, T., Topf, A., Straub, V., Bettolo, C. M., Specht, S., Clayton-Smith, J., Banka, S., Alexander, E., Faivre, L., Thauvin, C., Vitobello, A., Denomme-Pichon, A. -S., Duffourd, Y., Tisserant, E., Bruel, A. -L., Peyron, C., Pelissier, A., Beltran, S., Gut, I. G., Laurie, S., Piscia, D., Matalonga, L., Papakonstantinou, A., Bullich, G., Corvo, A., Garcia, C., Fernandez-Callejo, M., Hernandez, C., Pico, D., Paramonov, I., Lochmuller, H., Gumus, G., Bros-Facer, V., Rath, A., Hanauer, M., Olry, A., Lagorce, D., Havrylenko, S., Izem, K., Rigour, F., Stevanin, G., Durr, A., Davoine, C. -S., Guillot-Noel, L., Heinzmann, A., Coarelli, G., Bonne, G., Evangelista, T., Allamand, V., Nelson, I., Ben Yaou, R., Metay, C., Eymard, B., Cohen, E., Atalaia, A., Stojkovic, T., Macek, M., Turnovec, M., Thomasova, D., Kremlikova, R. P., Frankova, V., Havlovicova, M., Kremlik, V., Parkinson, H., Keane, T., Spalding, D., Senf, A., Robinson, P., Danis, D., Robert, G., Costa, A., Hanna, M., Houlden, H., Reilly, M., Vandrovcova, J., Muntoni, F., Zaharieva, I., Sarkozy, A., Timmerman, V., Baets, J., Van de Vondel, L., Beijer, D., de Jonghe, P., Nigro, V., Banfi, S., Torella, A., Musacchia, F., Piluso, G., Ferlini, A., Selvatici, R., Rossi, R., Neri, M., Aretz, S., Spier, I., Sommer, A. K., Peters, S., Oliveira, C., Pelaez, J. G., Matos, A. R., Jose, C. S., Ferreira, M., Gullo, I., Fernandes, S., Garrido, L., Ferreira, P., Carneiro, F., Swertz, M. A., Johansson, L., van der Velde, J. K., van der Vries, G., Neerincx, P. B., Roelofs-Prins, D., Kohler, S., Metcalfe, A., Verloes, A., Drunat, S., Rooryck, C., Trimouille, A., Castello, R., Morleo, M., Pinelli, M., Varavallo, A., De la Paz, M. P., Sanchez, E. B., Martin, E. L., Delgado, B. M., Alonso Garcia de la Rosa, F. J., Ciolfi, A., Dallapiccola, B., Pizzi, S., Radio, F. C., Tartaglia, M., Renieri, A., Benetti, E., Balicza, P., Molnar, M. J., Maver, A., Peterlin, B., Munchau, A., Lohmann, K., Herzog, R., Pauly, M., Macaya, A., Marce-Grau, A., Osorio, A. N., Natera de Benito, D., Thompson, R., Polavarapu, K., Beeson, D., Cossins, J., Rodriguez Cruz, P. M., Hackman, P., Johari, M., Savarese, M., Udd, B., Horvath, R., Capella, G., Valle, L., Holinski-Feder, E., Laner, A., Steinke-Lange, V., Schrock, E., Rump, A., Varshney, G. K.
المصدر: Genomics England Research Consortium, Jackson, A, Lin, S-J, Jones, E A, Chandler, K E, Orr, D, Moss, C, Haider, Z, Ryan, G, Harrison, M, Burrows, N, Jones, W D, Loveless, M, Petree, C, Stewart, H, Low, K, Donnelly, D, Lovell, S, Drosou, K, Varshney, G K & Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related Autosomal Recessive Ectodermal Dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186, pp. 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
Banka, S 2023, ' Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 ', Human Genetics and Genomics Advances, vol. 4, no. 2, 100186 . https://doi.org/10.1016/j.xhgg.2023.100186Test
HGG Adv
HGG Advances, 4, 2مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Hypodontia, Closca, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Ectodermal dysplasia, TSPEAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Conical teeth, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Enamel knot, Autosomal recessive ectodermal dysplasia type 14, WNT10A, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Extracellular matrix dependant signalling, Molecular Medicine, zebrafish fin regeneration, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a406c5a168d5b00147c9f04b9014ef2Test
https://doi.org/10.1016/j.xhgg.2023.100186Test -
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المؤلفون: Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz, Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov
المصدر: European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5مصطلحات موضوعية: Genetic tumour risk syndromes, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Omics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, General Medicine, European reference network, Tumour predisposition syndromes, All institutes and research themes of the Radboud University Medical Center, Neoplastic Syndromes, Hereditary, ERN GENTURIS, Exome Sequencing, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, Humans, Genetic Predisposition to Disease, Colorectal Neoplasms, Cancer genetics, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd81a62ab9d3b8928c73e1a1d1473b35Test
http://hdl.handle.net/10230/54621Test -
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المؤلفون: Steven Laurie, Teresinha Evangelista, Gulcin Gumus, Angela Lochmüller, Patrick F. Chinnery, Leigh C. Carmody, Gisèle Bonne, Hanns Lochmüller, Matthew J. Jennings, Thiloka Ratnaike, Rachel Thompson, Holm Graessner, Sergi Beltran, Leslie Matalonga, Carles Hernandez-Ferrer, Katherine Schon, Jean-François Desaphy, Peter N. Robinson, Virginie Bros-Facer, Carola Reinhard, Alberto Corvo, Rita Horvath, Matthis Synofzik, Bertrand Fontaine, Antonio Atalaia, David Gómez-Andrés, Davide Piscia, Katja Lohmann, Rabah Ben Yaou, Alfons Macaya, Olaf Riess, Birte Zurek
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
Orphanet journal of rare diseases 16(1), 145 (2021). doi:10.1186/s13023-021-01777-6مصطلحات موضوعية: Computer science, Writing, lcsh:R, Pharmacology toxicology, lcsh:Medicine, Correction, General Medicine, Data science, Human genetics, Rare Diseases, Systematic review, Research Design, Humans, Pharmacology (medical), ddc:610, Genetics (clinical), Data Management, Systematic Reviews as Topic, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee7f1a6694da6ec27b40c8e57474951Test
https://doi.org/10.1186/s13023-021-01777-6Test -
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المؤلفون: Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo
المصدر: Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6مصطلحات موضوعية: 0301 basic medicine, Syndromic and non-syndromic intellectual disability, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, QH426-470, 030105 genetics & heredity, Article, NAA10-related syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Acetyltransferase complex, N-Terminal Acetyltransferase E, N-Terminal Acetyltransferase A, Genetics (clinical), Exome sequencing, business.industry, Genotype–phenotype correlation, NAA10 Gene, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Xq28, Ogden Syndrome, X-linked disorder, Phenotype, 030104 developmental biology, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8Test
http://hdl.handle.net/10230/49030Test -
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المؤلفون: Sabrina Giglio, Allan Bayat, Helen Stewart, Steven Laurie, Livia Garavelli, Renata Rizzo, Marzia Pollazzon, Chiara Baldo, Janice Baker, Chiara Pantaleoni, Simonetta Rosato, Anna Lauriello, Ivan Ivanovski, Aldesia Provenzano, Orsetta Zuffardi, Elena Andreucci, Teresa Mattina, Alyssa Mendel, Davide Nicoli, Giorgia Carboni, Manuela Napoli, Stefano Giuseppe Caraffi, Francesca Peluso, Gabriele Trimarchi, Josue Flores-Daboub, Paolo Prontera, Ilenia Maini, Maria Marinelli, Nancy J. Mendelsohn, Katherine Lachlan, Gianluca Piatelli, Sara Giangiobbe
المصدر: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859Test
مصطلحات موضوعية: Adult, Male, Hypertrichosis, Pathology, medicine.medical_specialty, Contracture, Wiedemann–Steiner syndrome, Adolescent, Chiari malformation, Short stature, cervical C2/C3 vertebral fusion, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, craniovertebral junction, Epigenetics, Child, Growth Disorders, Genetics (clinical), Loss function, small foramen magnum, biology, business.industry, Facies, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, medicine.disease, Phenotype, medicine.anatomical_structure, Wiedemann-Steiner syndrome, Child, Preschool, Mutation, Cervical Vertebrae, Microcephaly, biology.protein, Female, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein, Cervical vertebrae
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9bTest
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdfTest -
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المؤلفون: M Pettersson, Yannis Duffourd, Marco Tartaglia, Steven Laurie, Tobias B. Haack, Karolis Sablauskas, Andrea Ciolfi, Antonio Vitobello, Aurélien Trimouille, A Nordgren, E Lopez-Martin, A Hugon, K Vyshka, M Schwarz, M Janssen, S Li, Isabelle Nelson, S Prasanth, Christian Gilissen, Lelm Vissers, Rita Horvath, Simone Pizzi, G Casari, Leslie Matalonga, de, Boer, E, Caroline Rooryck, Siddharth Banka, Michele Pinelli, Mridul Johari, Christel Thauvin, Peter N. Robinson, M Posada, Wouter Steyaert, RJ Rodenburg, Marco Savarese, Jill Clayton-Smith, Ana Töpf, Annalaura Torella, A-S Denomme-Pichon, A Hammarsjo, Milan Macek, A Lindstrand, L Ryba, Elisa Benetti, Enzo Cohen, Birte Zurek, van, der, Velde, Jk, CW Ockeloen, D Henssen, Marketa Havlovicova, Daniel Danis, Francesca Clementina Radio, Bruno Dallapiccola, Mjh Coenen, Ida Paramonov, Tjitske Kleefstra, Laurence Faivre, Lisenka E.L.M. Vissers, I Cuesta, Alessandra Renieri, Alexander Hoischen, Alain Verloes, Adam Jackson, Nigro, Sophia Peters
المصدر: European Journal of Human Genetics. 29:1470-1471
مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, 030305 genetics & heredity, medicine.disease, Human genetics, MT-TL1, 03 medical and health sciences, Epilepsy, Intellectual disability, Genetics, Spastic tetraparesis, Medicine, business, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1ca165e7b2a45a2ceb534d5a840ea3c9Test
https://doi.org/10.1038/s41431-021-00937-3Test -
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المؤلفون: Elmasnur Yilmaz, Sunitha Balaraju, Serdal Güngör, Yavuz Oktay, Semra Hiz, Ana Töpf, Hanns Lochmüller, Daniel G. MacArthur, Rachel Thompson, Uluç Yiş, Rita Horvath, Steven Laurie, Andreas Roos, Ahmet Yaramis, Ece Sonmezler
المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], MacArthur, Daniel G [0000-0002-5771-2290], Lochmüller, Hanns [0000-0003-2324-8001], Apollo - University of Cambridge Repository, MacArthur, Daniel G. [0000-0002-5771-2290]
المصدر: European journal of human genetics : EJHG
مصطلحات موضوعية: Adult, Male, Cerebellum, Heterozygote, Developmental Disabilities, Medizin, dysmorphism, Mutation, Missense, Biology, Brief Communication, medicine.disease_cause, Nervous System Malformations, Article, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Mutation, Trastorns del neurodesenvolupament, brief-communication, 030305 genetics & heredity, Homozygote, 1. No poverty, Infant, autosomal recessive, Heterozygote advantage, West Syndrome, Phenotype, 3. Good health, Pedigree, TLK2, neurodevelopmental disease, medicine.anatomical_structure, Female, Haploinsufficiency, Proteïnes, Protein Kinases, Spasms, Infantile, Genètica
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/png; image/jpeg; text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ae66386100761b3649aba86ab8c066Test
https://www.repository.cam.ac.uk/handle/1810/293649Test -
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المؤلفون: Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Steven Laurie, Uluç Yiş, Ayşe İpek Polat, Elmasnur Yilmaz, Yavuz Oktay, Semra Hiz, Aysenur Yaramis, Sergi Beltran, Pinar Edem, Hanns Lochmüller, Rita Horvath, Ana Töpf
المساهمون: Yaramış, Ayşenur, Yaramış, Ahmet, Lochmueller, Hanns, Topf, Ana, Sönmezler, Ece, Yılmaz, Elmasnur, Hız, Semra, Yiş, Uluç, Güngör, Serdal, Polat, Ayşe İpek, Edem, Pınar, Beltran, Sergi, Laurie, Steven, Horvath, Rita, Oktay, Yavuz, Graduate School of Health Sciences, Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]
المصدر: Neurology: Genetics
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Encefalopatia, Infants -- Malalties, genetic structures, Turkish, Encephalopathy, 32 Biomedical and Clinical Sciences, Disease, Neurodegenerative, Electroencephalography, COL4A1 mutations, Collagen, Hemorrhage, Phenotype, 3105 Genetics, Article, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Clinical Research, Genetics, medicine, 2.1 Biological and endogenous factors, Missense mutation, Medicine, Malformations of cortical development, Mutation, Basement membranes, Genetics (clinical), 030304 developmental biology, Pediatric, 2 Aetiology, 2. Zero hunger, 0303 health sciences, medicine.diagnostic_test, business.industry, Neurosciences, medicine.disease, language.human_language, Brain Disorders, 3. Good health, Neurological, Cohort, Mutation (genetic algorithm), language, Neurology (clinical), Neurogenètica, business, 030217 neurology & neurosurgery, 31 Biological Sciences
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab35767fe3363ad0088bb26608d0eb74Test
http://hdl.handle.net/10230/44436Test -
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المؤلفون: Grace McMacken, Judith Cossins, Seena Vengalil, Robert McFarland, Charu Deshpande, Rita Horvath, Astrid Pechmann, Helen Roper, Sunitha Balaraju, Robert W. Taylor, Saraswati Nashi, Nalini Atchayaram, Janbernd Kirschner, Kiran Polavarapu, David Beeson, Steven Laurie, Ana Töpf, Niranjan Prakash Mahajan, Veeramani Preethish Kumar, Ines A. Barbosa, Hanns Lochmüller
المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Malalties neuromusculars, Genetic testing, Neuromuscular transmission, Mutation, Missense, Organic Anion Transporters, 45/23, 631/208/2489/1512, Brief Communication, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Muscle, Skeletal, health care economics and organizations, Genetics (clinical), Exome sequencing, Myasthenic Syndromes, Congenital, business.industry, Genetic heterogeneity, Haplotype, Homozygote, 631/208/514/2254, brief-communication, Congenital myasthenic syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Haplotypes, Next-generation sequencing, Female, Malalties congènites, business, 030217 neurology & neurosurgery, Founder effect
وصف الملف: text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f20bae1015e38441624b4a45e35f05Test
https://www.repository.cam.ac.uk/handle/1810/310287Test -
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المؤلفون: Jaume Comas-Riu, Giuliana Maldonado, Amaya Amador-Catalan, Sergi Beltran, Teresa González-Alujas, Gemma Ferrer-Curriu, Artur Evangelista, Alfredo Bardají, María L Pérez, Berta Fuste, Steven Laurie, Manuel Galiñanes, Eduard Permanyer, Arnau Blasco-Lucas
المصدر: European Journal of Medical Genetics. 63:103854
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Heart disease, Heart Valve Diseases, Dwarfism, Short stature, Myxomatous degeneration, Frameshift mutation, Genetics, medicine, Humans, Heart valve, Family history, Child, Frameshift Mutation, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, Aged, business.industry, valvular heart disease, Exons, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Child, Preschool, Face, Female, medicine.symptom, business, Myxoma
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8718baf5be53095bc5008175bbf62299Test
https://doi.org/10.1016/j.ejmg.2020.103854Test