-
1دورية أكاديمية
المؤلفون: Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
-
2دورية أكاديمية
المؤلفون: Valérie Bonneau, Mathilde Nizon, Xenia Latypova, Aurélie Gaultier, Eugénie Hoarau, Stéphane Bézieau, Guy Minguet, Mauro Turrini, Maud Jourdain, Bertrand Isidor
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: Preconception genetic testing, Expanded carrier screening, Reproductive medicine, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
-
3دورية أكاديمية
المؤلفون: Noémi Dahan-Oliel, Klaus Dieterich, Frank Rauch, Ghalib Bardai, Taylor N. Blondell, Anxhela Gjyshi Gustafson, Reggie Hamdy, Xenia Latypova, Kamran Shazand, Philip F. Giampietro, Harold van Bosse
المصدر: Genes, Vol 12, Iss 8, p 1220 (2021)
مصطلحات موضوعية: CHRNG, distal arthrogryposis type 8, Escobar, multiple pterygium syndrome, MYH3, scoliosis, Genetics, QH426-470
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J. P. van Bosse, Philip F. Giampietro, Klaus Dieterich
المصدر: Genes, Vol 12, Iss 7, p 1052 (2021)
مصطلحات موضوعية: Amyoplasia, scoliosis, DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources), CNV (copy number variant), DA (distal arthrogryposis), IPA (ingenuity pathway analysis), Genetics, QH426-470
وصف الملف: electronic resource
-
5دورية أكاديمية
المؤلفون: Laura J Grange, John J Reynolds, Farid Ullah, Bertrand Isidor, Robert F Shearer, Xenia Latypova, Ryan M Baxley, Antony Oliver, Anil Ganesh, Sophie L Cooke, Satpal S Jhujh, Gavin S McNee, Robert Hollingworth, Martin R Higgs, others
مصطلحات موضوعية: Uncategorised value
-
6دورية أكاديمية
المؤلفون: Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raul Juntas Morales, Damien Sternberg, John Rendu, Tanya Stojkovic, Cécile Acquaviva Bourdain, Corinne Métay, Isabelle Richard, Mathieu Cerino, Mathieu Milh, Emmanuelle Campana-Salort, Svetlana Gorokhova, Nicolas Levy, Xénia Latypova, Gisèle Bonne, Valérie Biancalana, François Petit, Annamaria Molon, Aurélien Perrin, Pascal Laforêt, Shahram Attarian, Martin Krahn, Mireille Cossée
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8506
مصطلحات موضوعية: genetics, myopathy, actionability, next generation sequencing, diagnostic
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23158506Test
-
7دورية أكاديمية
المؤلفون: Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee
المصدر: Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
مصطلحات موضوعية: KCNK9 imprinting syndrome, TASK3 channel, Neurodevelopmental disorder, Electrophysiology, Computational protein modeling, Medicine, Genetics, QH426-470
العلاقة: https://doi.org/10.1186/s13073-022-01064-4Test; https://doaj.org/toc/1756-994XTest; https://doaj.org/article/e3306fa1990545148f66b913263d56baTest
الإتاحة: https://doi.org/10.1186/s13073-022-01064-4Test
https://doaj.org/article/e3306fa1990545148f66b913263d56baTest -
8دورية أكاديمية
المؤلفون: Valérie Bonneau (10298436), Mathilde Nizon (10298439), Xenia Latypova (10298442), Aurélie Gaultier (10286752), Eugénie Hoarau (10298445), Stéphane Bézieau (108133), Guy Minguet (10298448), Mauro Turrini (6996623), Maud Jourdain (10298451), Bertrand Isidor (3180630)
مصطلحات موضوعية: Medicine, Genetics, Pharmacology, Sociology, Science Policy, Biological Sciences not elsewhere classified, Preconception genetic testing, Expanded carrier screening, Reproductive medicine
-
9دورية أكاديمية
المؤلفون: Valérie Bonneau (10298436), Mathilde Nizon (10298439), Xenia Latypova (10298442), Aurélie Gaultier (10286752), Eugénie Hoarau (10298445), Stéphane Bézieau (108133), Guy Minguet (10298448), Mauro Turrini (6996623), Maud Jourdain (10298451), Bertrand Isidor (3180630)
مصطلحات موضوعية: Medicine, Genetics, Pharmacology, Sociology, Science Policy, Biological Sciences not elsewhere classified, Preconception genetic testing, Expanded carrier screening, Reproductive medicine
-
10
المؤلفون: Ayaz Khan, Shixiong Tian, Muhammad Tariq, Sheraz Khan, Muhammad Safeer, Naimat Ullah, Nazia Akbar, Iram Javed, Mahnoor Asif, Ilyas Ahmad, Shahid Ullah, Humayoon Shafique Satti, Raees Khan, Muhammad Naeem, Mahwish Ali, John Rendu, Julien Fauré, Klaus Dieterich, Xenia Latypova, Shahid Mahmood Baig, Naveed Altaf Malik, Feng Zhang, Tahir Naeem Khan, Chunyu Liu
المصدر: Molecular Genetics and Genomics. 297:1601-1613
مصطلحات موضوعية: Exome Sequencing, Homozygote, Mutation, Genetics, Humans, Metalloendopeptidases, Transposases, General Medicine, Nervous System Diseases, Molecular Biology, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cabcb7b0d627957db87c74f7d66809Test
https://doi.org/10.1007/s00438-022-01945-8Test