檢索結果 - Sangeetha Yoganathan
- Showing 1 - 6 results of 6
-
1
-
2
Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2 由 Sherry Fang, Peter T. Clayton, Divyani Garg, Sangeetha Yoganathan, Maha S. Zaki, Elin A. Helgadottir, Vala Palmadottir, Maude Landry, Sidney M. Gospe, Kshitij Mankad, Vincenzo Bonifati, Suvasini Sharma, Karin Tuschl
出版 2025Artigo -
3
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India 由 Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Shilpa Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
出版 2023Artigo -
4
KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases 由 Felippe Borlot, Ahmed Abushama, Nadine Morrison‐Levy, Puneet Jain, Kollencheri Puthenveettil Vinayan, Musaad Abukhalid, Hesham Aldhalaan, Hanin S. Almuzaini, Sheffali Gulati, Tova Hershkovitz, Ramesh Konanki, Lokesh Lingappa, Aimée F. Luat, Shatha Shafi, Brahim Tabarki, Maya Thomas, Sangeetha Yoganathan, Majid Alfadhel, Ravindra Arya, Elizabeth Donner, Salleh N. Ehaideb, Vykuntaraju K. Gowda, Vivek Jain, Priyanka Madaan, Kenneth A. Myers, Hiroshi Otsubo, Prateek Kumar Panda, Jitendra Kumar Sahu, Leticia P. B Sampaio, Suvasini Sharma, Elisabeth Simard‐Tremblay, Maria Zak, Robyn Whitney
出版 2020Artigo -
5
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia 由 Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul‐Sada, Christina Hung, Michael A. Simpson, W.K. Chong, Thomas S. Jacques, Randy Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn Maher, John Spencer, Ania Straatman‐Iwanowska, Paul Gissen, Laila Selim, Guillem Pintos‐Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson
出版 2016Artigo -
6
<i>PURA-</i> Related Developmental and Epileptic Encephalopathy 由 Katrine M. Johannesen, Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders, Sandra Whalen, Boris Keren, Julien Buratti, Thomas Courtin, Klaas J. Wierenga, Bertrand Isidor, Amélie Piton, Laurence Faivre, Aurore Garde, Sébastien Moutton, Frédéric Tran Mau‐Them, Anne‐Sophie Denommé‐Pichon, Christine Coubes, Austin Larson, Michael J. Esser, Juan Pablo Appendino, Walla Al‐Hertani, Beatriz Gamboni, Alejandra Mampel, Lía Mayorga, Alessandro Orsini, Alice Bonuccelli, Agnese Suppiej, Julien Van‐Gils, Julie Vogt, Simona Damioli, Lucio Giordano, Stéphanie Moortgat, Elaine Wirrell, Sarah Hicks, Usha Kini, Nathan Noble, Helen Stewart, Shailesh Asakar, Julie S. Cohen, Sakkubai Naidu, Ashley Collier, Eva H. Brilstra, Mindy H. Li, Casey Brew, Stefania Bigoni, Davide Ognibene, Elisa Ballardini, Claudia Ruivenkamp, Raffaella Faggioli, Alexandra Afenjar, Diana Rodriguez, David Bick, Devorah Segal, David Coman, Boudewijn Gunning, Orrin Devinsky, Laurie Demmer, Theresa A. Grebe, Dario Pruna, Ida Cursio, Lynn Greenhalgh, Claudio Graziano, Rahul Raman Singh, Gaetano Cantalupo, Marjolaine Willems, Sangeetha Yoganathan, Fernanda Veiga de Góes, Richard J. Leventer, Davide Colavito, Sara Olivotto, Barbara Scelsa, Andrea Andrade, Kelly Ratke, F Tokarz, Atiya Khan, Clothilde Ormières, William Benko, Karen Keough, Sotirios Keros, Shanawaz Hussain, Ashlea Franques, Felicia Varsalone, Sabine Grønborg, Cyril Mignot, Delphine Héron, Caroline Nava, Arnaud Isapof, Felippe Borlot, Robyn Whitney, Anne Ronan, Nicola Foulds, Marta Somorai, John F. Brandsema, Katherine L. Helbig, Ingo Helbig, Xilma R. Ortiz‐González, Holly Dubbs, Antonio Vitobello
出版 2021Artigo
相關主題
Medicine
Internal medicine
Psychiatry
Biology
Cohort
Disease
Dystonia
Epilepsy
Gene
Genetics
Mutation
Neuroscience
Parkinsonism
Pathology
Pediatrics
Artificial intelligence
Basal ganglia
Central nervous system
Chemistry
Computer science
Consanguinity
Corpus callosum
Encephalopathy
Etiology
Gene duplication
Genetic counseling
Genetic heterogeneity
Genotype
Homeostasis
Knot tying