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 69

1.
Jagadish Chandrabose Sundaramurthi, Anita M. Bagley, Hannah Blau, Leigh Carmody, Amy Crandall, Daniel Danis, Michael A. Gargano, Anxhela Gjyshi Gustafson, Ellen M. Raney, Mallory Shingle, Jon R. Davids, Peter N. Robinson
Cold Spring Harb Mol Case Stud. 2023 Dec; 9(4): a006293. doi: 10.1101/mcs.a006293
PMCID:
PMC10815282
2.
Xu-Hang Xing, Russel Takam, Xiu-Ying Bao, Nour Abdallah Ba-alwi, Hong Ji
World J Clin Cases. 2023 Sep 26; 11(27): 6505–6514. Published online 2023 Sep 26. doi: 10.12998/wjcc.v11.i27.6505
PMCID:
PMC10600989
3.
Tania Cuppens, Manpreet Kaur, Ajay A. Kumar, Julie Shatto, Andy Cheuk-Him Ng, Mickael Leclercq, Marek Z. Reformat, Arnaud Droit, Ian Dunham, François V. Bolduc
Front Pediatr. 2023; 11: 1171920. Published online 2023 Sep 18. doi: 10.3389/fped.2023.1171920
PMCID:
PMC10543689
4.
Berra Yildiz, Lisa Schiedt, Medhanie Mulaw, Jürgen Bockmann, Sarah Jesse, Anne-Kathrin Lutz, Tobias M. Boeckers
Front Cell Dev Biol. 2023; 11: 1243299. Published online 2023 Sep 6. doi: 10.3389/fcell.2023.1243299
PMCID:
PMC10511643
5.
Elizabeth A Morton, Ashley N Hall, Josh T Cuperus, Christine Queitsch
Genetics. 2023 May; 224(1): iyad039. Published online 2023 Mar 15. doi: 10.1093/genetics/iyad039
PMCID:
PMC10474940
6.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
7.
Lyna Siafa, Emanuela Argilli, Elliott H. Sherr, Kenneth A. Myers
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2022 Jun; 131: 1–3. Published online 2022 Mar 31. doi: 10.1016/j.pediatrneurol.2022.03.005
PMCID:
PMC10257559
8.
Yan Dong, Ruofei Lian, Liang Jin, Shichao Zhao, Wenpeng Tao, Lijun Wang, Mengchun Li, Tianming Jia, Xuejing Chen, Shushi Cao
Front Neurol. 2023; 14: 1152696. Published online 2023 May 5. doi: 10.3389/fneur.2023.1152696
PMCID:
PMC10196350
9.
Mauro Lecca, Davut Pehlivan, Damià Heine Suñer, Karin Weiss, Thibault Coste, Markus Zweier, Yavuz Oktay, Nada Danial-Farran, Vittorio Rosti, Maria Paola Bonasoni, Alessandro Malara, Gianluca Contrò, Roberta Zuntini, Marzia Pollazzon, Rosario Pascarella, Alberto Neri, Carlo Fusco, Dana Marafi, Tadahiro Mitani, Jennifer Ellen Posey, Sadik Etka Bayramoglu, Alper Gezdirici, Jessica Hernandez-Rodriguez, Emilia Amengual Cladera, Elena Miravet, Jorge Roldan-Busto, María Angeles Ruiz, Cristofol Vives Bauzá, Liat Ben-Sira, Sabine Sigaudy, Anaïs Begemann, Sheila Unger, Serdal Güngör, Semra Hiz, Ece Sonmezler, Yoav Zehavi, Michael Jerdev, Alessandra Balduini, Orsetta Zuffardi, Rita Horvath, Hanns Lochmüller, Anita Rauch, Livia Garavelli, Elisabeth Tournier-Lasserve, Ronen Spiegel, James R. Lupski, Edoardo Errichiello
Am J Hum Genet. 2023 Apr 6; 110(4): 681–690. Published online 2023 Mar 29. doi: 10.1016/j.ajhg.2023.03.005
PMCID:
PMC10119151
10.
Emanuela Salzano, Marcello Niceta, Simone Pizzi, Francesca Clementina Radio, Martina Busè, Francesca Mercadante, Sabina Barresi, Arturo Ferrara, Cecilia Mancini, Marco Tartaglia, Maria Piccione
Front Neurol. 2023; 14: 1090082. Published online 2023 Feb 7. doi: 10.3389/fneur.2023.1090082
PMCID:
PMC9941528
11.
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M. Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J. Sedlazeck, Jill V. Hunter, Shalini N. Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E. Posey, Claudia M.B. Carvalho, Richard A. Gibbs, James R. Lupski
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Mar; 191(3): 794–804. Published online 2023 Jan 4. doi: 10.1002/ajmg.a.63080
PMCID:
PMC9928800
12.
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A. Dyment, Kristin D. Kernohan
Genes (Basel) 2023 Jan; 14(1): 108. Published online 2022 Dec 29. doi: 10.3390/genes14010108
PMCID:
PMC9859306
13.
Jinhong Zhang, Yan Lu, Xiaoyu Tian, Xinyi Men, Yange Zhang, Huifang Yan, Fan Yang, Zuozhen Yang, Xiuxia Wang
Mol Genet Genomic Med. 2022 Oct; 10(10): e2036. Published online 2022 Aug 13. doi: 10.1002/mgg3.2036
PMCID:
PMC9544213
14.
Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen
Genet Med.
Published in final edited form as: Genet Med. 2022 Aug; 24(8): 1753–1760. Published online 2022 May 18. doi: 10.1016/j.gim.2022.04.010
PMCID:
PMC9378544
15.
Wen Zhang, Dong Li, Nan Pang, Li Jiang, Baomin Li, Fanghua Ye, Fang He, Shimeng Chen, Fangyun Liu, Jing Peng, Jinghua Yin, Fei Yin
Front Pediatr. 2022; 10: 911805. Published online 2022 Jul 22. doi: 10.3389/fped.2022.911805
PMCID:
PMC9353215
16.
Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407
PMCID:
PMC9162882
17.
Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P Ferla, Charul Gijavanekar, Aljazi Al-Maraghi, Ning Liu, Emily Sites, Hessa S Alsaif, Mohammad Al-Owain, Mohamed Zakkariah, Ehab El-Anany, Ulviyya Guliyeva, Sughra Guliyeva, Colette Gaba, Ateeq Haseeb, Amal M Alhashem, Enam Danish, Vasiliki Karageorgou, Christian Beetz, Alaa A Subhi, Sureni V Mullegama, Erin Torti, Monisha Sebastin, Margo Sheck Breilyn, Susan Duberstein, Mohamed S Abdel-Hamid, Tadahiro Mitani, Haowei Du, Jill A Rosenfeld, Shalini N Jhangiani, Zeynep Coban Akdemir, Richard A Gibbs, Jenny C Taylor, Khalid A Fakhro, Jill V Hunter, Davut Pehlivan, Maha S Zaki, Joseph G Gleeson, Reza Maroofian, Henry Houlden, Jennifer E Posey, V Reid Sutton, Fowzan S Alkuraya, Sarah H Elsea, James R Lupski
Brain. 2022 Mar; 145(3): 909–924. Published online 2021 Oct 4. doi: 10.1093/brain/awab369
PMCID:
PMC9050560
18.
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group
Front Genet. 2022; 13: 652454. Published online 2022 Apr 12. doi: 10.3389/fgene.2022.652454
PMCID:
PMC9044489
19.
Xiaorui Liu, Lingling Xie, Zhixu Fang, Li Jiang
Front Neurol. 2021; 12: 796283. Published online 2022 Jan 14. doi: 10.3389/fneur.2021.796283
PMCID:
PMC8795361
20.
Vykuntaraju K. Gowda, Balamurugan Nagarajan, Srividya G. Suryanarayana, Varunvenkat M. Srinivasan
J Pediatr Neurosci. 2021 Apr-Jun; 16(2): 149–152. Published online 2021 Jul 2. doi: 10.4103/jpn.JPN_65_20
PMCID:
PMC8706588

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