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 30

1.
Milena Crippa, Ilaria Bestetti, Silvia Maitz, Karin Weiss, Alice Spano, Maura Masciadri, Sarah Smithson, Lidia Larizza, Karen Low, Lior Cohen, Palma Finelli
Front Neurol. 2020; 11: 631. Published online 2020 Jul 24. doi: 10.3389/fneur.2020.00631
PMCID:
PMC7393934
2.
Elena Capacci, Silvia Bagnoli, Giulia Giacomucci, Costanza Maria Rapillo, Alessandra Govoni, Valentina Bessi, Cristina Polito, Irene Giotti, Alice Brogi, Elisabetta Pelo, Sandro Sorbi, Benedetta Nacmias, Camilla Ferrari
Cerebellum. 2024; 23(3): 1135–1145. Published online 2023 Oct 31. doi: 10.1007/s12311-023-01620-7
PMCID:
PMC11102406
3.
Xin Lv, Xiao Yang, Linlin Li, Fagui Yue, Hongguo Zhang, Ruixue Wang
Medicine (Baltimore) 2023 Oct 27; 102(43): e34852. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034852
PMCID:
PMC10615468
4.
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Geeske M. van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M.W. Teurlings, Virginie Vignard, Richard H. van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C.J. Jongmans, F. Sessions Cole, Marie-José H. van den Boogaard, Jennifer A. Wambach, Daniel J. Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan Towne, Kristine Bachman, Andrea Seeley, Anita E. Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T. Carter, Matthew Osmond, Patricia G. Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frédéric Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter Krawitz, Uwe Völker, Elke Hammer, Arnaud Droit, Evan E. Eichler, Ype Elgersma, Peter W. Hildebrand, François Bolduc, Elke Krüger, Stéphane Bézieau
Sci Transl Med.
Published in final edited form as: Sci Transl Med. 2023 May 31; 15(698): eabo3189. Published online 2023 May 31. doi: 10.1126/scitranslmed.abo3189
PMCID:
PMC10506367
5.
Hong Meng, Yue‐Xin Jia, Hui‐Min Yang, Xin Gao, Cha‐Gan‐Hu Li, Guo‐Yan Xin, Yu‐Min Wang
Brain Behav. 2023 Aug; 13(8): e3131. Published online 2023 Jun 20. doi: 10.1002/brb3.3131
PMCID:
PMC10454276
6.
Jing Duan, Yuanzhen Ye, Jianxiang Liao, Li Chen, Xia Zhao, Chao Liu, Jialun Wen
BMC Pediatr. 2023; 23: 158. Published online 2023 Apr 4. doi: 10.1186/s12887-023-03972-9
PMCID:
PMC10071667
7.
Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network
Lancet Neurol.
Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2
PMCID:
PMC9979840
8.
Hannah Gabriela Valverde de Morales, Hsiao-Lin V. Wang, Kathryn Garber, Xiaodong Cheng, Victor G. Corces, Hong Li
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 718–729. Published online 2022 Dec 1. doi: 10.1002/ajmg.a.63065
PMCID:
PMC9928606
9.
Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Int J Mol Sci. 2022 Nov; 23(22): 14215. Published online 2022 Nov 17. doi: 10.3390/ijms232214215
PMCID:
PMC9693521
10.
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Int J Mol Sci. 2022 Nov; 23(22): 13664. Published online 2022 Nov 8. doi: 10.3390/ijms232213664
PMCID:
PMC9690904
11.
Špela Miroševič, Shivang Khandelwal, Petra Sušjan, Nina Žakelj, David Gosar, Vida Forstnerič, Duško Lainšček, Roman Jerala, Damjan Osredkar
Int J Mol Sci. 2022 Oct; 23(20): 12564. Published online 2022 Oct 19. doi: 10.3390/ijms232012564
PMCID:
PMC9604177
12.
Viviana Tritto, Marica Eoli, Rosina Paterra, Serena Redaelli, Marco Moscatelli, Francesco Rusconi, Paola Riva
Int J Mol Sci. 2022 Sep; 23(17): 10017. Published online 2022 Sep 2. doi: 10.3390/ijms231710017
PMCID:
PMC9456353
13.
Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos
Genes (Basel) 2021 Aug; 12(8): 1257. Published online 2021 Aug 17. doi: 10.3390/genes12081257
PMCID:
PMC8394041
14.
陈 兰, 赫 纹, 刘 玲
Zhongguo Dang Dai Er Ke Za Zhi. 2021 Mar 15; 23(3): 306–309. Chinese. doi: 10.7499/j.issn.1008-8830.2010095
PMCID:
PMC7969196
15.
Lot Snijders Blok, Arianna Vino, Joery den Hoed, Hunter R. Underhill, Danielle Monteil, Hong Li, Francis Jeshira Reynoso Santos, Wendy K. Chung, Michelle D. Amaral, Rhonda E. Schnur, Teresa Santiago-Sim, Yue Si, Han G. Brunner, Tjitske Kleefstra, Simon E. Fisher
Genet Med. 2021; 23(3): 534–542. Published online 2020 Oct 28. doi: 10.1038/s41436-020-01016-6
PMCID:
PMC7935712
16.
Kenji Gonda, Takanori Akama, Takayuki Nakamura, Eiko Hashimoto, Naomi Kyoya, Yuichi Rokkaku, Yuko Maejima, Shoichiro Horita, Kazunoshin Tachibana, Noriko Abe, Tohru Ohtake, Kenju Shimomura, Koji Kono, Shigehira Saji, Seiichi Takenoshita, Eiji Higashihara
J Med Case Rep. 2019; 13: 381. Published online 2019 Dec 24. doi: 10.1186/s13256-019-2274-6
PMCID:
PMC6929341
17.
Ann D. Cohen, Eric McDade, Brad Christian, Julie Price, Chester Mathis, William Klunk, Benjamin L. Handen
Alzheimers Dement.
Published in final edited form as: Alzheimers Dement. 2018 Jun; 14(6): 743–750. Published online 2018 Mar 1. doi: 10.1016/j.jalz.2018.01.002
PMCID:
PMC5994364
18.
Francesca Mattioli, Elise Schaefer, Alex Magee, Paul Mark, Grazia M. Mancini, Klaus Dieterich, Gretchen Von Allmen, Marielle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Mark Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean-Louis Mandel, Amélie Piton
Am J Hum Genet. 2017 Jan 5; 100(1): 105–116. Published online 2016 Dec 8. doi: 10.1016/j.ajhg.2016.11.010
PMCID:
PMC5223023
19.
Alma Kuechler, Alexander M Zink, Thomas Wieland, Hermann-Josef Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, Kimia Najafi, Christiane Zweier, Johanna Christina Czeschik, Stefan Aretz, Sabine Endele, Federica Tamburrino, Claudia Pinato, Maurizio Clementi, Jasmin Gundlach, Carina Maylahn, Laura Mazzanti, Eva Wohlleber, Thomas Schwarzmayr, Roxana Kariminejad, Avner Schlessinger, Dagmar Wieczorek, Tim M Strom, Gaia Novarino, Hartmut Engels
Eur J Hum Genet. 2015 Jun; 23(6): 753–760. Published online 2014 Aug 20. doi: 10.1038/ejhg.2014.165
PMCID:
PMC4795044
20.
Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R. Beck, Claudia M.B. Carvalho, Sau Wai Cheung, Andrew Coe, Valérie Malan, Arnold Munnich, Pilar L. Magoulas, Lorraine Potocki, James R. Lupski
Am J Hum Genet. 2015 Nov 5; 97(5): 691–707. Published online 2015 Nov 5. doi: 10.1016/j.ajhg.2015.10.003
PMCID:
PMC4667131

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