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Links from MedGen

Items: 8

1.
Huilun H. Wang, Liangguang L. Lin, Zexin J. Li, Xiaoqiong Wei, Omar Askander, Gerarda Cappuccio, Mais O. Hashem, Laurence Hubert, Arnold Munnich, Mashael Alqahtani, Qi Pang, Margit Burmeister, You Lu, Karine Poirier, Claude Besmond, Shengyi Sun, Nicola Brunetti-Pierri, Fowzan S. Alkuraya, Ling Qi
J Clin Invest. 2024 Jan 16; 134(2): e170054. Published online 2024 Jan 16. doi: 10.1172/JCI170054
PMCID:
PMC10786691
2.
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
3.
Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann-Josef Lüdecke, Margarete Koch-Hogrebe, Hessa S. Alsaif, Kimia Kahrizi, Hamad Alzaidan, Bashayer S. Alawam, Mohamed Tohary, Cornelia Kraus, Sabine Endele, Erin Wadman, Julie D. Kaplan, Stephanie Efthymiou, Hossein Najmabadi, André Reis, Fowzan S. Alkuraya, Dagmar Wieczorek
J Mol Med (Berl) 2021; 99(12): 1755–1768. Published online 2021 Sep 18. doi: 10.1007/s00109-021-02124-9
PMCID:
PMC8599376
4.
Marco Carraro, Alexander Miguel Monzon, Luigi Chiricosta, Francesco Reggiani, Maria Cristina Aspromonte, Mariagrazia Bellini, Kymberleigh Pagel, Yuxiang Jiang, Predrag Radivojac, Kunal Kundu, Lipika R. Pal, Yizhou Yin, Ivan Limongelli, Gaia Andreoletti, John Moult, Stephen J. Wilson, Panagiotis Katsonis, Olivier Lichtarge, Jingqi Chen, Yaqiong Wang, Zhiqiang Hu, Steven E. Brenner, Carlo Ferrari, Alessandra Murgia, Silvio C.E. Tosatto, Emanuela Leonardi
Hum Mutat.
Published in final edited form as: Hum Mutat. 2019 Sep; 40(9): 1330–1345. Published online 2019 Jul 3. doi: 10.1002/humu.23823
PMCID:
PMC7341177
5.
Martina Huemer, Regina Mulder-Bleile, Patricie Burda, D. Sean Froese, Terttu Suormala, Bruria Ben Zeev, Patrick Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Johannes Häberle, Alexander Lossos, Eugen Mengel, Andrew Morris, Klary E. Niezen-Koning, Barbara Plecko, Rosella Parini, Dariusz Rokicki, Manuel Schiff, Mareike Schimmel, Adrian Sewell, Wolfgang Sperl, Ute Spiekerkötter, Beat Steinmann, Grazia Tadeucci, Jose Trejo, Friedrich Trefz, Megumi Tsuji, María Antònia Vilaseca, Jürgen-Christoph von Kleist-Retzow, Valerie Walker, Jiri Zeman, Matthias R. Baumgartner, Brian Fowler
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2016 Jan 1; 39(1): 115–124. Published online 2015 May 30. doi: 10.1007/s10545-015-9860-6
PMCID:
PMC6551224
6.
Jianling Ji, Lishuang Shen, Moiz Bootwalla, Catherine Quindipan, Tatiana Tatarinova, Dennis T. Maglinte, Jonathan Buckley, Gordana Raca, Sulagna C. Saitta, Jaclyn A. Biegel, Xiaowu Gai
Cold Spring Harb Mol Case Stud. 2019 Apr; 5(2): a003756. doi: 10.1101/mcs.a003756
PMCID:
PMC6549575
7.
Young Ok Kim, Misun Yun, Jae-Ho Jeong, Seong Min Choi, Seul Kee Kim, Woong Yoon, Chungoo Park, Yeongjin Hong, Young Jong Woo
J Korean Med Sci. 2017 Nov; 32(11): 1885–1890. Published online 2017 Sep 1. doi: 10.3346/jkms.2017.32.11.1885
PMCID:
PMC5639074
8.
A Smith, C Wiles, E Haan, J McGill, G Wallace, J Dixon, R Selby, A Colley, R Marks, R J Trent
J Med Genet. 1996 Feb; 33(2): 107–112. doi: 10.1136/jmg.33.2.107
PMCID:
PMC1051834

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