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 27

1.
Megan E. Rowland, Jana M. Jajarmi, Tess S. M. Osborne, Annie Vogel Ciernia
Front Mol Neurosci. 2022; 15: 805158. Published online 2022 Feb 3. doi: 10.3389/fnmol.2022.805158
PMCID:
PMC8852769
2.
Larissa Markwardt, D. W. Gerdes, R. Malhotra, J. C. Becker, S. J. Hamilton, F. C. Adams
Mon Not R Astron Soc.
Published in final edited form as: Mon Not R Astron Soc. 2020 Mar; 492(4): 6105–6119. Published online 2020 Jan 28. doi: 10.1093/mnras/staa232
PMCID:
PMC8051149
3.
Zhen-Ya Zheng, James E. Rhoads, Junxian Wang, Sangeeta Malhotra, Alistair Walker, Thomas Mooney, Chunyan Jiang, Weida Hu, Pascale Hibon, Linhua Jiang, Leopoldo Infante, L. Felipe Barrientos, Gaspar Galaz, Francisco Valdes, William Wester, Huan Yang, Alicia Coughlin, Santosh Harish, Wenyong Kang, Ali Ahmad Khostovan, Xu Kong, Lucia A. Perez, John Pharo, Isak Wold, XianZhong Zheng
Publ Astron Soc Pac.
Published in final edited form as: Publ Astron Soc Pac. 2019 Jul 1; 131(1001): 074502. Published online 2019 Jun 3. doi: 10.1088/1538-3873/ab1c32
PMCID:
PMC7837426
4.
Lucie Y. Ahn, Giuliana C. Coatti, Jingyi Liu, Evren Gumus, Ashleigh E. Schaffer, Helen C. Miranda
J Neurosci Res. 2021 Jan; 99(1): 110–123. Published online 2020 Nov 3. doi: 10.1002/jnr.24747
PMCID:
PMC7756336
5.
Julia Roquette, Jerome Bouvier, Estelle Moraux, Herve Bouy, Jonathan Irwin, Suzanne Aigrain, Régis Lachaume
Proc Int Astron Union.
Published in final edited form as: Proc Int Astron Union. 2019 Jun; 15(Suppl 354): 200–203. Published online 2020 Sep 24. doi: 10.1017/S1743921319009797
PMCID:
PMC7116139
6.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
7.
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi
Mol Genet Genomic Med. 2023 Dec; 11(12): e2256. Published online 2023 Aug 18. doi: 10.1002/mgg3.2256
PMCID:
PMC10724518
8.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
9.
Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O’Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonnière, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Béla Melegh, András Szabó, Katalin Sümegi, Mireille Cossée, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden, Genomics England Research Consortium
Genet Med. 2023 Jan; 25(1): 76–89. doi: 10.1016/j.gim.2022.09.013
PMCID:
PMC10620943
10.
Erik Rosenhahn, Thomas J. O’Brien, Maha S. Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S. Alkuraya, Mais O. Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S. Alamri, Ayat H. Al Safar, Dalal K. Bubshait, Nada F. Alahmady, Joseph G. Gleeson, Mohamed S. Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P. Correia, Anna Wredenberg, Shahryar Alavi, Seyed M. Seyedhassani, Mahya Ebrahimi Nasab, Haytham Hussien, Tarek E.I. Omar, Ines Harzallah, Renaud Touraine, Homa Tajsharghi, Heba Morsy, Henry Houlden, Mohammad Shahrooei, Maryam Ghavideldarestani, Ghada M.H. Abdel-Salam, Annalaura Torella, Mariateresa Zanobio, Gaetano Terrone, Nicola Brunetti-Pierri, Abdolmajid Omrani, Julia Hentschel, Johannes R. Lemke, Heinrich Sticht, Rami Abou Jamra, Andre E.X. Brown, Reza Maroofian, Konrad Platzer
Am J Hum Genet. 2022 Aug 4; 109(8): 1421–1435. Published online 2022 Jul 12. doi: 10.1016/j.ajhg.2022.06.008
PMCID:
PMC9388382
11.
ALISA MO, LEEANNE G SNYDER, OWEN BABINGTON, WENDY K CHUNG, MUSTAFA SAHIN, SIDDHARTH SRIVASTAVA
Dev Med Child Neurol.
Published in final edited form as: Dev Med Child Neurol. 2022 May; 64(5): 654–661. Published online 2021 Oct 26. doi: 10.1111/dmcn.15100
PMCID:
PMC8986546
12.
Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna E. Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben-Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy-Anh Vu, Sally Ackermann, Careni E. Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman-Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg
Ann Neurol.
Published in final edited form as: Ann Neurol. 2020 Aug; 88(2): 348–362. Published online 2020 Jul 9. doi: 10.1002/ana.25809
PMCID:
PMC8552104
13.
Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, Joseph Melvin, Agustin Legido, Mayela M. Diaz-Diaz, Christopher Griffith, Lauren J. Massingham, Melissa Yelton, Janice Rodríguez-Hernández, Rhonda E. Schnur, Laurence E. Walsh, Ana G. Cristancho, Christina A. Bergqvist, Kirsty McWalter, Iain Mathieson, Gillian M. Belbin, Eimear E. Kenny, Xilma R. Ortiz-Gonzalez, Michael C. Schneider
J Child Neurol.
Published in final edited form as: J Child Neurol. 2021 Feb; 36(2): 93–98. Published online 2020 Sep 15. doi: 10.1177/0883073820953001
PMCID:
PMC8496110
14.
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio
Epilepsia.
Published in final edited form as: Epilepsia. 2020 Jul; 61(7): e71–e78. Published online 2020 Jul 9. doi: 10.1111/epi.16582
PMCID:
PMC8168379
15.
Dana Marafi, Tadahiro Mitani, Sedat Isikay, Jozef Hertecant, Mohammed Almannai, Kandamurugu Manickam, Rami Abou Jamra, Ayman W. El‐Hattab, Jaishen Rajah, Jawid M. Fatih, Haowei Du, Ender Karaca, Yavuz Bayram, Jaya Punetha, Jill A. Rosenfeld, Shalini N. Jhangiani, Eric Boerwinkle, Zeynep C. Akdemir, Serkan Erdin, Jill V. Hunter, Richard A. Gibbs, Davut Pehlivan, Jennifer E. Posey, James R. Lupski
Ann Clin Transl Neurol. 2020 May; 7(5): 610–627. Published online 2020 Apr 14. doi: 10.1002/acn3.51003
PMCID:
PMC7261753
16.
Ting Hu, Zhu Zhang, Jiamin Wang, Qinqin Li, Hongmei Zhu, Yi Lai, He Wang, Shanling Liu
Biomed Res Int. 2019; 2019: 9352581. Published online 2019 Nov 6. doi: 10.1155/2019/9352581
PMCID:
PMC6875000
17.
Alison M. Muir, Candace T. Myers, Nancy T. Nguyen, Julia Saykally, Dana Craiu, Peter De Jonghe, Ingo Helbig, Dorota Hoffman, Renzo Guerrini, Anna-Elina Lehesjoki, Carla Marini, Rikke S. Møller, Jose Serratosa, Katalin Štěrbová, Pasquale Striano, Sarah von Spiczak, EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen, Heather C. Mefford
Epilepsy Res.
Published in final edited form as: Epilepsy Res. 2019 Oct; 156: 106181. Published online 2019 Jul 29. doi: 10.1016/j.eplepsyres.2019.106181
PMCID:
PMC6814289
18.
Lacey Smith, Nilika Singhal, Christelle M. El Achkar, Gessica Truglio, Rosen-Sheidley Beth, Joseph Sullivan, Annapurna Poduri
Epilepsia.
Published in final edited form as: Epilepsia. 2018 Mar; 59(3): 679–689. Published online 2018 Jan 28. doi: 10.1111/epi.14003
PMCID:
PMC6264912
19.
Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xin, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Deciphering Developmental Disorders Study, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford
Am J Hum Genet. 2018 Nov 1; 103(5): 666–678. Published online 2018 Oct 18. doi: 10.1016/j.ajhg.2018.09.006
PMCID:
PMC6216110
20.
Réjean M. Guerriero, Archana A. Patel, Brian Walsh, Fiona M. Baumer, Ankoor S. Shah, Jurriaan M. Peters, Lance H. Rodan, Pankaj B. Agrawal, Phillip L. Pearl, Masanori Takeoka
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2017 Nov; 76: 47–53. Published online 2017 Jun 3. doi: 10.1016/j.pediatrneurol.2017.05.024
PMCID:
PMC6008785

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