U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 165

1.
Feda E. Mohamed, Mohammad A. Ghattas, Taleb M. Almansoori, Mohammed Tabouni, Ibrahim Baydoun, Praseetha Kizhakkedath, Anne John, Hiba Alblooshi, Qudsia Shaukat, Fatma Al-Jasmi
Front Pediatr. 2023; 11: 1183574. Published online 2023 Jul 12. doi: 10.3389/fped.2023.1183574
PMCID:
PMC10369183
2.
Megan L. Ratz, Greg Leary, Andrea Grindeland, Derek Silvius, Joseph Guter, Michael P. Kavanaugh, Teresa M. Gunn
Version 1. Res Sq. Preprint. 2023 Apr 24. doi: 10.21203/rs.3.rs-2839029/v1
PMCID:
PMC10168478
3.
Ji-Qing Duan, Hui Liu, Jia-Qiao Wu
Front Integr Neurosci. 2023; 17: 1117617. Published online 2023 Mar 24. doi: 10.3389/fnint.2023.1117617
PMCID:
PMC10079982
4.
Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Bertini, Adele D'Amico
Neurol Genet. 2022 Apr; 8(2): e661. Published online 2021 Mar 3. doi: 10.1212/NXG.0000000000000661
PMCID:
PMC8893591
5.
Mika Hayakawa, Tomoyasu Matsubara, Yoko Mochizuki, Chisen Takeuchi, Motoyuki Minamitani, Masayuki Imai, Kenjiro Kosaki, Tomio Arai, Shigeo Murayama
BMC Neurol. 2022; 22: 2. Published online 2022 Jan 3. doi: 10.1186/s12883-021-02514-z
PMCID:
PMC8722294
6.
Valentina Bruni, Cristina Scozzafava, Maria Gnazzo, Francesca Parisi, Simona Sestito, Licia Pensabene, Antonio Novelli, Daniela Concolino
J Pediatr Genet. 2021 Mar; 10(1): 49–52. Published online 2020 Feb 17. doi: 10.1055/s-0040-1701645
PMCID:
PMC7853907
7.
Chuan Li, Qi Yan, Feng-ju Duan, Chao Zhao, Zhuo Zhang, Ying Du, Wei Zhang
BMC Neurol. 2021; 21: 12. Published online 2021 Jan 11. doi: 10.1186/s12883-020-02040-4
PMCID:
PMC7798194
8.
Hanadi A. Abdelrahman, Aisha Al-Shamsi, Anne John, Bassam R. Ali, Lihadh Al-Gazali
Child Neurol Open. 2019; 6: 2329048X19880647. Published online 2019 Oct 8. doi: 10.1177/2329048X19880647
PMCID:
PMC6852354
9.
Tomohiro Sakaguchi, Tamara Žigman, Danijela Petković Ramadža, Lana Omerza, Silvija Pušeljić, Zrinka Ereš Hrvaćanin, Noriko Miyake, Naomichi Matsumoto, Ivo Barić
Hum Genome Var. 2018; 5: 18005. Published online 2018 Mar 8. doi: 10.1038/hgv.2018.5
PMCID:
PMC5842148
10.
Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BMC Med Genet. 2017; 18: 33. Published online 2017 Mar 21. doi: 10.1186/s12881-017-0395-6
PMCID:
PMC5359868
11.
Chandra Madhur Sharma, Deepti Sharma, Romal Kumar, Rahul Ranjan
J Pediatr Neurosci. 2015 Jul-Sep; 10(3): 273–275. doi: 10.4103/1817-1745.165705
PMCID:
PMC4611903
12.
Sanjeev Rajakulendran, Coro Paisán-Ruiz, Henry Houlden
J Clin Neurol. 2011 Jun; 7(2): 102–104. Published online 2011 Jun 28. doi: 10.3988/jcn.2011.7.2.102
PMCID:
PMC3131536
13.
Alice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, Jennifer Silhavy, Stephanie L. Bielas, Shifteh Sattar, Joseph G. Gleeson, Maha Zaki
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2011 Jan–Feb; 54(1): 82–85. Published online 2010 Nov 12. doi: 10.1016/j.ejmg.2010.10.006
PMCID:
PMC3073376
14.
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Epilepsia. 2023 May; 64(5): 1351–1367. Published online 2023 Mar 11. doi: 10.1111/epi.17542
PMCID:
PMC10952634
15.
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Orphanet J Rare Dis. 2024; 19: 107. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03065-5
PMCID:
PMC10921669
16.
Laura Krumm, Tatyana Pozner, Naime Zagha, Roland Coras, Philipp Arnold, Thanos Tsaktanis, Kathryn Scherpelz, Marie Y. Davis, Johanna Kaindl, Iris Stolzer, Patrick Süß, Mukhran Khundadze, Christian A. Hübner, Markus J. Riemenschneider, Jonathan Baets, Claudia Günther, Suman Jayadev, Veit Rothhammer, Florian Krach, Jürgen Winkler, Beate Winner, Martin Regensburger
Acta Neuropathol. 2024; 147(1): 28. Published online 2024 Feb 2. doi: 10.1007/s00401-023-02675-w
PMCID:
PMC10837238
17.
Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari
Brain. 2023 May; 146(5): 2003–2015. Published online 2022 Oct 31. doi: 10.1093/brain/awac391
PMCID:
PMC10411936
18.
Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN) , Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis
Ann Clin Transl Neurol. 2023 Jun; 10(6): 1046–1053. Published online 2023 May 16. doi: 10.1002/acn3.51786
PMCID:
PMC10270265
19.
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk
Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143
PMCID:
PMC9545274
20.
Yanhong Wang, Xuan Zheng, Chao Feng, Xiaoge Fan, Lei Liu, Pengbo Guo, Zhi Lei, Shiyue Mei
Mol Genet Genomic Med. 2022 Oct; 10(10): e2025. Published online 2022 Aug 19. doi: 10.1002/mgg3.2025
PMCID:
PMC9544218

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center