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Items: 1 to 20 of 88

1.
Sheng Yi, Xianglian Tang, Fei Chen, Linlin Wang, Junjie Chen, Zuojian Yang, Minpan Huang, Shang Yi, Limei Huang, Qi Yang, Shuihua Yang, Pingshan Pan, Zailong Qin, Jingsi Luo
Mol Genet Genomic Med. 2024 Jan; 12(1): e2358. Published online 2024 Jan 12. doi: 10.1002/mgg3.2358
PMCID:
PMC10785557
2.
Tao Wang, Yu-Xing Liu, Fang-Mei Luo, Yi Dong, Ya-Li Li, Liang-Liang Fan
Front Pediatr. 2021; 9: 774575. Published online 2021 Nov 29. doi: 10.3389/fped.2021.774575
PMCID:
PMC8666876
3.
Mara Giordano, Valentina Muratore, Deepak Babu, Cristina Meazza, Mauro Bozzola
Mol Cytogenet. 2016; 9: 89. Published online 2016 Dec 3. doi: 10.1186/s13039-016-0298-9
PMCID:
PMC5135744
5.
Hong WEN, Lu CHEN, Kai YAN, Jing HE
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 274–278. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.08
PMCID:
PMC10396837
6.
Lidvana Spahiu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj
J Mother Child. 2022 Mar; 26(1): 118–123. Published online 2023 Feb 22. doi: 10.34763/jmotherandchild.20222601.d-22-00034
PMCID:
PMC10032320
7.
Ajay X. Thomas, Nichole Link, Laurie A. Robak, Gail Demmler‐Harrison, Emily C. Pao, Audrey E. Squire, Savannah Michels, Julie S. Cohen, Anne Comi, Paolo Prontera, Alberto Verrotti di Pianella, Giuseppe Di Cara, Livia Garavelli, Stefano Giuseppe Caraffi, Carlo Fusco, Roberta Zuntini, Kendall C. Parks, Elliott H. Sherr, Mais O. Hashem, Sateesh Maddirevula, Fowzan S. Alkuraya, Isphana A. F. Contractar, Jennifer E. Neil, Christopher A. Walsh, Hugo J. Bellen, Hsiao‐Tuan Chao, Robin D. Clark, Ghayda M. Mirzaa
Ann Clin Transl Neurol. 2022 Aug; 9(8): 1276–1288. Published online 2022 Jul 24. doi: 10.1002/acn3.51629
PMCID:
PMC9380164
8.
Sarah K Suciu, Alyssa B Long, Tamara Caspary
Genetics. 2021 Aug; 218(4): iyab084. Published online 2021 Jun 16. doi: 10.1093/genetics/iyab084
PMCID:
PMC8864748
9.
Chia-Hsiang Chang, Ting-Yu Chen, I-Ling Lu, Rong-Bin Li, Jhih-Jie Tsai, Pin-Yeh Lin, Tang K. Tang
Genes Dev. 2021 Nov 1; 35(21-22): 1445–1460. doi: 10.1101/gad.348636.121
PMCID:
PMC8559671
10.
Andrea Accogli, Stacy Goergen, Giana Izzo, Kshitij Mankad, Karina Krajden Haratz, Cecilia Parazzini, Michael Fahey, Lara Menzies, Julia Baptista, Lucia Carpineta, Domenico Tortora, Ezio Fulcheri, Valerio Gaetano Vellone, Dario Paladini, Luigina Spaccini, Valentina Toto, Claire Trayers, Liat Ben Sira, Adi Reches, Gustavo Malinger, Vincenzo Salpietro, Patrizia De Marco, Myriam Srour, Federico Zara, Valeria Capra, Andrea Rossi, Mariasavina Severino
Ann Clin Transl Neurol. 2021 Oct; 8(10): 2004–2012. Published online 2021 Sep 12. doi: 10.1002/acn3.51448
PMCID:
PMC8528460
11.
Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova
BMC Ophthalmol. 2021; 21: 249. Published online 2021 Jun 5. doi: 10.1186/s12886-021-02013-2
PMCID:
PMC8180164
12.
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Genes (Basel) 2021 Feb; 12(2): 229. Published online 2021 Feb 5. doi: 10.3390/genes12020229
PMCID:
PMC7915150
13.
Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P. Bupp, Bert L. Callewaert, Anna Cereda, Margot A. Cousin, Juan C. Del Rey Jimenez, Laurie Demmer, Nikita R. Dsouza, Nicole Fleischer, Ralitza H. Gavrilova, Sumedha Ghate, Elisabeth Graf, Andrew Green, Sarah R. Green, Maria Iascone, Ameni Kdissa, Dirk Klee, Eric W. Klee, Emily Lancaster, Kristin Lindstrom, Johannes A. Mayr, Meriel McEntagart, Naomi J. L. Meeks, Dana Mittag, Harrison Moore, Anne K. Olsen, Damara Ortiz, Gretchen Parsons, Loren D. M. Pena, Richard E. Person, Sumit Punj, Gonzalo Alonso Ramos-Rivera, Maria J. Guillen Sacoto, G. Bradley Schaefer, Rhonda E. Schnur, Tiana M. Scott, Daryl A. Scott, Carolyn R. Serbinski, Vandana Shashi, Victoria M. Siu, Barbro Fossøy Stadheim, Jennifer A. Sullivan, Jana Švantnerová, Lea Velsher, David S. Wargowski, Ingrid M. Wentzensen, Dagmar Wieczorek, Juliane Winkelmann, Patrick Yap, Michael Zech, Michael T. Zimmermann, Thomas Meitinger, Felix Distelmaier, Matias Wagner
Genet Med. 2021; 23(2): 384–395. Published online 2020 Nov 11. doi: 10.1038/s41436-020-00993-y
PMCID:
PMC7862064
14.
Filippo Casoni, Laura Croci, Francesca Vincenti, Paola Podini, Michela Riba, Luca Massimino, Ottavio Cremona, G. Giacomo Consalez
Development. 2020 Nov 15; 147(22): dev190173. Published online 2020 Nov 30. doi: 10.1242/dev.190173
PMCID:
PMC7725605
15.
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen, Alan G. Valdovino Gonzalez, Shelby Wade, Cinny Wong, Eunnie Kim, Hsiang-Hua M. Chen, Alison Ponn, Dorothy Concepcion, Bruce A. Hamilton
G3 (Bethesda) 2020 Nov; 10(11): 4241–4247. Published online 2020 Sep 23. doi: 10.1534/g3.120.401720
PMCID:
PMC7642944
16.
Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma
BMC Med Genet. 2020; 21: 192. Published online 2020 Oct 1. doi: 10.1186/s12881-020-01130-x
PMCID:
PMC7531107
17.
Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello
Ital J Pediatr. 2020; 46: 140. Published online 2020 Sep 24. doi: 10.1186/s13052-020-00903-7
PMCID:
PMC7517646
18.
Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffrè, Gregorio Serra, Giovanni Corsello
Ital J Pediatr. 2020; 46: 136. Published online 2020 Sep 18. doi: 10.1186/s13052-020-00902-8
PMCID:
PMC7499940
19.
Tong Liu, Huihui Xie, Jingbo Zhang, Xia Wang, Jing Sha, Jingfang Zhai
J Obstet Gynaecol Res. 2020 Sep; 46(9): 1900–1906. Published online 2020 Jul 8. doi: 10.1111/jog.14386
PMCID:
PMC7496467
20.
Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen, Hongqian Liu
Hum Genomics. 2020; 14: 26. Published online 2020 Jun 29. doi: 10.1186/s40246-020-00274-4
PMCID:
PMC7325267

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