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Items: 1 to 20 of 147

1.
Niki Dermitzaki, Themistoklis Loukopoulos, Athanasios Zikopoulos, Anastasia Vatopoulou, Sofoklis Stavros, Chara Skentou
Cureus. 2023 Dec; 15(12): e50331. Published online 2023 Dec 11. doi: 10.7759/cureus.50331
PMCID:
PMC10779346
2.
Shivani Mishra, Katta Mohan Girisha, Anju Shukla
Clin Dysmorphol.
Published in final edited form as: Clin Dysmorphol. 2021 Jan; 30(1): 1–5. doi: 10.1097/MCD.0000000000000360
PMCID:
PMC9944571
3.
Elizaveta Makarova, Nicole R. Legro, Ermal Aliu
Case Rep Genet. 2023; 2023: 1581876. Published online 2023 Jan 10. doi: 10.1155/2023/1581876
PMCID:
PMC9845047
4.
Hongzheng Dai, Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong-Hui Jiang, John A. Phillips, Melissa S. Jones, Pengfei Liu, David R. Murdock, Lindsay C. Burrage, Brendan Lee, Jill A. Rosenfeld, Rui Xiao, Undiagnosed Diseases Network
Hum Mutat.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 1816–1823. Published online 2022 Nov 6. doi: 10.1002/humu.24497
PMCID:
PMC9772143
5.
Hao-Yi Tan, Bin Wang, Yuan-Zong Song
BMC Pediatr. 2022; 22: 612. Published online 2022 Oct 22. doi: 10.1186/s12887-022-03672-w
PMCID:
PMC9587582
6.
Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai
Mol Genet Genomic Med. 2022 Jan; 10(1): e1849. Published online 2021 Dec 31. doi: 10.1002/mgg3.1849
PMCID:
PMC8801141
7.
Han Na Jang, Taeho Kim, Ah Young Jung, Beom Hee Lee, Mi-Sun Yum, Tae-Sung Ko
Medicine (Baltimore) 2021 Nov 24; 100(47): e27949. Published online 2021 Nov 24. doi: 10.1097/MD.0000000000027949
PMCID:
PMC8615421
8.
Juan Cardenas, Jose Cardenas, Andrew Lee, Martha Brown, Fernando Galan, Jason Scimeme, Anatalia Labilloy
Cureus. 2021 Oct; 13(10): e19006. Published online 2021 Oct 24. doi: 10.7759/cureus.19006
PMCID:
PMC8609979
9.
Yilun Tao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
Front Genet. 2021; 12: 747422. Published online 2021 Sep 14. doi: 10.3389/fgene.2021.747422
PMCID:
PMC8476880
10.
Rosaura Conti, Chiara Zanchi, Egidio Barbi
Ital J Pediatr. 2021; 47: 28. Published online 2021 Feb 12. doi: 10.1186/s13052-021-00984-y
PMCID:
PMC7881555
11.
Jasndeep Kaler, Azhar Hussain, Sundip Patel, Shankar Majhi
Cureus. 2020 Feb; 12(2): e6922. Published online 2020 Feb 8. doi: 10.7759/cureus.6922
PMCID:
PMC7008760
12.
Chih-Chuan Wang, Xilma R. Ortiz-González, Sabrina W. Yum, Sara M. Gill, Amy White, Erin Kelter, Laurie H. Seaver, Sansan Lee, Graham Wiley, Patrick M. Gaffney, Klaas J. Wierenga, Matthew N. Rasband
Am J Hum Genet. 2018 Jun 7; 102(6): 1158–1168. Published online 2018 May 31. doi: 10.1016/j.ajhg.2018.04.012
PMCID:
PMC5992132
13.
Mathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, Madeleine Joubert, Jean-Michel Liet, Laure Simon, Marie Vincent, Sébastien Küry, Pierre Boisseau, Sébastien Schmitt, Sandra Mercier, Claire Bénéteau, Catherine Larrose, Marianne Coste, Xénia Latypova, Yann Péréon, Jean-Marie Mussini, Stéphane Bézieau, Bertrand Isidor
Eur J Hum Genet. 2017 Jan; 25(1): 150–152. Published online 2016 Oct 26. doi: 10.1038/ejhg.2016.142
PMCID:
PMC5159775
15.
Mohamed Nagiub, Karen Alton, Premchand Anne
Am J Case Rep. 2012; 13: 214–217. Published online 2012 Sep 5. doi: 10.12659/AJCR.883367
PMCID:
PMC3615929
16.
B R Keeton
Arch Dis Child. 1976 Aug; 51(8): 636–638. doi: 10.1136/adc.51.8.636
PMCID:
PMC1546117
17.
Astrid Eisenkölbl, Manuel Pühringer
J Neuromuscul Dis. 2024; 11(2): 493–498. Prepublished online 2024 Feb 1. Published online 2024 Mar 5. doi: 10.3233/JND-221659
PMCID:
PMC10977412
18.
Charles Kumi Hammond, Emmanuel Oppong, Emmanuel Ameyaw, Joslin Alexei Dogbe
Pan Afr Med J. 2023; 46: 78. Published online 2023 Nov 9. doi: 10.11604/pamj.2023.46.78.32240
PMCID:
PMC10819849
19.
Clemer Abad, Maria C. Robayo, Maria del Mar Muñiz-Moreno, Maria T. Bernardi, Maria G. Otero, Christina Kosanovic, Anthony J. Griswold, Tyler Mark Pierson, Katherina Walz, Juan I. Young
Transl Psychiatry. 2024; 14: 33. Published online 2024 Jan 18. doi: 10.1038/s41398-023-02678-x
PMCID:
PMC10796954
20.
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

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