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Items: 1 to 20 of 487

1.
陈 柏谕, 陈 施梦, 熊 娟, 尹 飞
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28; 46(4): 432–437. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190756
PMCID:
PMC10930301
2.
César Augusto P.F. Alves, Matthew T. Whitehead
Neurotherapeutics. 2024 Jan; 21(1): e00324. Published online 2024 Feb 1. doi: 10.1016/j.neurot.2024.e00324
PMCID:
PMC10903090
3.
Elisa Musto, Maria Luigia Gambardella, Marco Perulli, Michela Quintiliani, Chiara Veredice, Tommaso Verdolotti, Giovanna Berté, Chiara Leoni, Roberta Onesimo, Silvia Maria Pulitanò, Marco Tartaglia, Giuseppe Zampino, Ilaria Contaldo, Domenica Immacolata Battaglia
Epilepsia Open. 2024 Feb; 9(1): 258–267. Published online 2023 Dec 20. doi: 10.1002/epi4.12864
PMCID:
PMC10839340
4.
Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li, Ji Li
Orphanet J Rare Dis. 2024; 19: 35. Published online 2024 Feb 1. doi: 10.1186/s13023-024-03038-8
PMCID:
PMC10832113
5.
Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki, Jamie Wangen, Andrea Ciolfi, Sabina Barresi, Stephanie Efthymiou, Angelique Lamaze, Gabriel N. Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi, Jenny C. Taylor, Gabriela Oprea, Volha Skrahina, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G. El Said, Mohamed S. Abdel-Hamid, Maha Al Shalan, Gohun Seo, Sohyun Kim, Hane Lee, Rin Khang, Mahmoud Y. Issa, Hasnaa M. Elbendary, Karima Rafat, Nikolaos M. Marinakis, Joanne Traeger-Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson, SYNAPS Study Group, Aida Bertoli-Avella, Alistair T. Pagnamenta, Marcello Niceta, Roberta Battini, Antonio Corsello, Chiara Leoni, Francesco Chiarelli, Bruno Dallapiccola, Eissa Ali Faqeih, Krishnaraya K. Tallur, Majid Alfadhel, Eman Alobeid, Sateesh Maddirevula, Kshitij Mankad, Siddharth Banka, Ehsan Ghayoor-Karimiani, Marco Tartaglia, Wendy K. Chung, Rachel Green, Fowzan S. Alkuraya, James E.C. Jepson, Henry Houlden
Am J Hum Genet. 2024 Jan 4; 111(1): 200–210. Published online 2023 Dec 20. doi: 10.1016/j.ajhg.2023.11.012
PMCID:
PMC10806450
6.
Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo
Genes (Basel) 2023 Dec; 14(12): 2111. Published online 2023 Nov 22. doi: 10.3390/genes14122111
PMCID:
PMC10742720
7.
Rebekah M. Charney, Maneeshi S. Prasad, Czarina Juan-Sing, Lipsa J. Patel, Jacqueline C. Hernandez, Jie Wu, Martín I. García-Castro
Stem Cell Reports. 2023 Nov 14; 18(11): 2254–2267. Published online 2023 Oct 26. doi: 10.1016/j.stemcr.2023.10.002
PMCID:
PMC10679662
8.
Anna Papadopoulou, Evangelia Bountouvi
Front Endocrinol (Lausanne) 2023; 14: 1231828. Published online 2023 Oct 27. doi: 10.3389/fendo.2023.1231828
PMCID:
PMC10641803
9.
Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
EMBO Mol Med. 2023 Nov; 15(11): e17973. Published online 2023 Oct 6. doi: 10.15252/emmm.202317973
PMCID:
PMC10630875
10.
Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar
Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322
PMCID:
PMC10591249
11.
Siyue Yao, Xi Zhou, Min Gu, Chengcheng Zhang, Oliver Bartsch, Barbara Vona, Liwen Fan, Lan Ma, Yongchu Pan
Hum Genomics. 2023; 17: 93. Published online 2023 Oct 13. doi: 10.1186/s40246-023-00539-8
PMCID:
PMC10576343
12.
Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan
Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660
PMCID:
PMC10567209
13.
Monica N. Valentin, Benjamin D. Solomon, Gabriele Richard, Carlos R. Ferreira, A. Yasmine Kirkorian
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2018 Nov; 176(11): 2451–2455. Published online 2018 Oct 5. doi: 10.1002/ajmg.a.40485
PMCID:
PMC10557913
14.
Crésio Alves, Ruth Rocha Franco
Arch Endocrinol Metab. 2020 May-Jun; 64(3): 223–234. Published online 2020 Jun 5. doi: 10.20945/2359-3997000000248
PMCID:
PMC10522225
15.
Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang
Orphanet J Rare Dis. 2023; 18: 284. Published online 2023 Sep 11. doi: 10.1186/s13023-023-02878-0
PMCID:
PMC10496309
16.
Ekaterina P. Andrianova, Robert A. Marmion, Stanislav Y. Shvartsman, Igor B. Zhulin
Proc Natl Acad Sci U S A. 2023 Aug 22; 120(34): e2304184120. Published online 2023 Aug 14. doi: 10.1073/pnas.2304184120
PMCID:
PMC10450672
17.
Stephanie Keer, Helene Cousin, Karyn Jourdeuil, Karen M. Neilson, Andre L. P. Tavares, Dominique Alfandari, Sally A. Moody
Dev Biol.
Published in final edited form as: Dev Biol. 2022 Sep; 489: 62–75. Published online 2022 Jun 11. doi: 10.1016/j.ydbio.2022.06.002
PMCID:
PMC10426812
18.
Claire L. Simpson, Danielle C. Kimble, Settara C. Chandrasekharappa, NISC Comparative Sequencing Program, Khalid Alqosayer, Emily Holzinger, Blake Carrington, John McElderry, Raman Sood, Ghiath Al‐Souqi, Hasan Albacha‐Hejazi, Joan E. Bailey‐Wilson
Mol Genet Genomic Med. 2023 Aug; 11(8): e2179. Published online 2023 Apr 18. doi: 10.1002/mgg3.2179
PMCID:
PMC10422068
19.
Bibi Hajra, Abdullah, Nousheen Bibi, Fibhaa Syed, Asmat Ullah, Wasim Ahmad, Umm-e-Kalsoom
An Bras Dermatol. 2023 Sep-Oct; 98(5): 580–586. Published online 2023 May 12. doi: 10.1016/j.abd.2022.07.009
PMCID:
PMC10404504
20.
Philippa H. Francis-West, Raj K. Ladher, Gary C. Schoenwolf
Sci Prog. 2002 May; 85(2): 151–173. Published online 2019 Feb 27. doi: 10.3184/003685002783238852
PMCID:
PMC10361195

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