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Items: 1 to 20 of 182

1.
Maha S. Zaki, Andrea Accogli, Ghayda Mirzaa, Fatima Rahman, Hiba Mohammed, Gloria Liliana Porras-Hurtado, Stephanie Efthymiou, Shazia Maqbool, Anju Shukla, John B. Vincent, Abrar Hussain, Asif Mir, Christian Beetz, Anika Leubauer, Henry Houlden, Joseph G. Gleeson, Reza Maroofian
Eur J Hum Genet. 2021 Aug; 29(8): 1226–1234. Published online 2021 Jun 24. doi: 10.1038/s41431-021-00910-0
PMCID:
PMC8385073
2.
Nicholas J. Bratt, Cliff W. Hampton
Epilepsy Behav Rep. 2021; 15: 100395. Published online 2020 Oct 21. doi: 10.1016/j.ebr.2020.100395
PMCID:
PMC7797505
3.
Stephanie Waich, Andreas R. Janecke, Walther Parson, Susanne Greber‐Platzer, Thomas Müller, Lukas A. Huber, Taras Valovka, Julia Vodopiutz
Clin Genet. 2020 Sep; 98(3): 282–287. Published online 2020 Jul 7. doi: 10.1111/cge.13797
PMCID:
PMC7497047
4.
Daniel L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Päivi Vieira, Kristiina Avela, Valérie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P. M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä
Eur J Hum Genet. 2020 Apr; 28(4): 532. Published online 2019 Sep 10. doi: 10.1038/s41431-019-0491-5
PMCID:
PMC7080772
5.
Daniel L. Polla, Elisa Rahikkala, Michaela K. Bode, Tuomo Määttä, Teppo Varilo, Thyrza Loman, Anju K. Philips, Mitja Kurki, Aarno Palotie, Jarmo Körkkö, Päivi Vieira, Kristiina Avela, Valérie Jacquemin, Isabelle Pirson, Marc Abramowicz, Arjan P. M. de Brouwer, Outi Kuismin, Hans van Bokhoven, Irma Järvelä
Eur J Hum Genet. 2019 Aug; 27(8): 1235–1243. Published online 2019 Mar 26. doi: 10.1038/s41431-019-0383-8
PMCID:
PMC6777631
6.
Vignesh Ravindran, Vishnu Rekha, Sankar Annamalai, Parisa Norouzi-Baghkomeh, Ditto Sharmin
J Clin Exp Dent. 2017 May; 9(5): e726–e728. Published online 2017 May 1. doi: 10.4317/jced.53684
PMCID:
PMC5429489
7.
Ujjawal Roy, Alak Pandit, Urmila Das, Ajay Panwar
J Clin Imaging Sci. 2016; 6: 15. Published online 2016 Apr 29. doi: 10.4103/2156-7514.181491
PMCID:
PMC4863413
8.
Seshadri Sekhar Chatterjee, Devlina Talapatra, Rudra Acharya, Sujit Sarkhel
Indian J Psychol Med. 2015 Oct-Dec; 37(4): 452–455. doi: 10.4103/0253-7176.168595
PMCID:
PMC4676216
9.
Deren Özcan, Murat Derbent, Deniz Seçkin, Yunus Emre Bikmaz, Muhteşem Ağildere, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Berkan Gürakan
Ann Dermatol. 2013 Nov; 25(4): 483–488. Published online 2013 Nov 30. doi: 10.5021/ad.2013.25.4.483
PMCID:
PMC3870219
10.
Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, Daniela Pucatti, Emilio Franzoni, Elena Parrini
Eur J Hum Genet. 2012 Sep; 20(9): 995–998. Published online 2012 Feb 15. doi: 10.1038/ejhg.2012.21
PMCID:
PMC3421113
11.
Guoling Tian, Xiang-Peng Kong, Xavier H. Jaglin, Jamel Chelly, David Keays, Nicholas J. Cowan
Mol Biol Cell. 2008 Mar; 19(3): 1152–1161. doi: 10.1091/mbc.E07-09-0861
PMCID:
PMC2262973
12.
R M Winter, B N Harding, J Hyde
J Med Genet. 1989 Dec; 26(12): 788–789. doi: 10.1136/jmg.26.12.788
PMCID:
PMC1015766
13.
Meng-Han Tsai, Hao-Chen Ke, Wan-Cian Lin, Fang-Shin Nian, Chia-Wei Huang, Haw-Yuan Cheng, Chi-Sin Hsu, Tiziana Granata, Chien-Hui Chang, Barbara Castellotti, Shin-Yi Lin, Fabio M. Doniselli, Cheng-Ju Lu, Silvana Franceschetti, Francesca Ragona, Pei-Shan Hou, Laura Canafoglia, Chien-Yi Tung, Mei-Hsuan Lee, Won-Jing Wang, Jin-Wu Tsai
Acta Neuropathol. 2024; 147(1): 13. Published online 2024 Jan 9. doi: 10.1007/s00401-023-02665-y
PMCID:
PMC10776482
14.
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F. Mujgan Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yesilyurt
Eur J Hum Genet. 2024 Jan; 32(1): 52–60. Published online 2023 Oct 26. doi: 10.1038/s41431-023-01461-2
PMCID:
PMC10772072
15.
Clara Gontijo Camelo, Mariana Cunha Artilheiro, Cristiane Araújo Martins Moreno, Suely Fazio Ferraciolli, André Macedo Serafim Silva, Tatiana Ribeiro Fernandes, Leandro Tavares Lucato, Antônio José Rocha, Umbertina Conti Reed, Edmar Zanoteli
J Neuromuscul Dis. 2023; 10(4): 483–492. Prepublished online 2023 May 9. Published online 2023 Jul 4. doi: 10.3233/JND-221638
PMCID:
PMC10357150
16.
Atul Gupta, Chaithanya Reddy, Lokesh Saini, Jaivinder Yadav, Rakesh Kumar, Jayne Houghton, Sian Ellard, Devi Dayal
Pediatr Endocrinol Diabetes Metab. 2021 Dec; 27(4): 287–290. Published online 2021 Dec 19. doi: 10.5114/pedm.2021.107719
PMCID:
PMC10226343
17.
Mengna Liu, Xiao Liu, Jiebin Wu, Jing Sha, Jingfang Zhai, Bei Zhang
Medicine (Baltimore) 2023 Feb 17; 102(7): e33014. Published online 2023 Feb 17. doi: 10.1097/MD.0000000000033014
PMCID:
PMC9936017
18.
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
19.
Shambhu Kumar Sahani, Anil Pathak, Bishal Nepali, Nilshan Rai
JNMA J Nepal Med Assoc. 2022 Nov; 60(255): 978–981. Published online 2022 Nov 30. doi: 10.31729/jnma.7893
PMCID:
PMC9795095
20.
Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida’ Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova, Xiaoxia Cui, David T. Curiel, Davut Pehlivan, Zeynep Coban Akdemir, Jennifer E. Posey, James R. Lupski, William B. Dobyns, Rolf W. Stottmann, Andrew H. Crosby, Emma L. Baple
Am J Hum Genet. 2022 Nov 3; 109(11): 2068–2079. Published online 2022 Oct 24. doi: 10.1016/j.ajhg.2022.09.012
PMCID:
PMC9674946

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