التفاصيل البيبلوغرافية
| العنوان: |
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis |
| 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 |
| بيانات النشر: |
Springer Science and Business Media LLC, 2021. |
| سنة النشر: |
2021 |
| 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 |
| تدمد: |
1476-5438
1018-4813 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_________::1ca165e7b2a45a2ceb534d5a840ea3c9Test
https://doi.org/10.1038/s41431-021-00937-3Test |
| حقوق: |
OPEN |
| رقم الانضمام: |
edsair.doi...........1ca165e7b2a45a2ceb534d5a840ea3c9 |
| قاعدة البيانات: |
OpenAIRE |
