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Items: 1 to 20 of 32

1.
A. M. Mohamed, H. T. El-Bassyouni, A. M. El-Gerzawy, S. A. Hammad, N. A. Helmy, A. K. Kamel, S. I. Ismail, M. Y. Issa, O. Eid, M. S. Zaki
Mol Cytogenet. 2018; 11: 57. Published online 2018 Nov 6. doi: 10.1186/s13039-018-0406-0
PMCID:
PMC6219057
2.
Joo Hyun Cho, Eun Song Song, Hee Na Kim, Burm Seok Oh, Young Youn Choi
Korean J Pediatr. 2014 Jun; 57(6): 292–296. Published online 2014 Jun 30. doi: 10.3345/kjp.2014.57.6.292
PMCID:
PMC4115071
3.
Fan Yang, Yu Ding, Yirou Wang, Qingwen Zhang, Hao Li, Tingting Yu, Guoying Chang, Xiumin Wang
Medicine (Baltimore) 2024 Jan 12; 103(2): e35908. Published online 2024 Jan 12. doi: 10.1097/MD.0000000000035908
PMCID:
PMC10783315
4.
Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu
Mol Genet Genomic Med. 2023 Sep; 11(9): e2192. Published online 2023 May 10. doi: 10.1002/mgg3.2192
PMCID:
PMC10496081
5.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
6.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Pier Luigi Calvo, Diana Carli, Michelle Caudle, Samantha Colaiacovo, Laura Cross, Kalliope Demetriou, Katy Drazba, Marina Dutra-Clarke, Matthew Edwards, Casie A Genetti, Dorothy K Grange, Scott E Hickey, Bertrand Isidor, Sébastien Küry, Herbert M Lachman, Alinoe Lavillaureix, Michael J Lyons, Carlo Marcelis, Elysa J Marco, Julian A Martinez-Agosto, Catherine Nowak, Antonio Pizzol, Marc Planes, Eloise J Prijoles, Evelise Riberi, Eric T Rush, Bianca E Russell, Rani Sachdev, Betsy Schmalz, Deborah Shears, David A Stevenson, Kate Wilson, Sandra Jansen, Bert B.A. deVries, Cynthia J Curry
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2023 Jul; 191(7): 1900–1910. Published online 2023 May 14. doi: 10.1002/ajmg.a.63226
PMCID:
PMC10330231
7.
Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2
PMCID:
PMC10329570
8.
Jing Duan, Yuanzhen Ye, Jianxiang Liao, Li Chen, Xia Zhao, Chao Liu, Jialun Wen
BMC Pediatr. 2023; 23: 158. Published online 2023 Apr 4. doi: 10.1186/s12887-023-03972-9
PMCID:
PMC10071667
9.
Anna H. Boerwinkle, Brian A. Gordon, Julie Wisch, Shaney Flores, Rachel L. Henson, Omar H. Butt, Nicole McKay, Charles D. Chen, Tammie L.S. Benzinger, Anne M. Fagan, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark Mapstone, William E. Klunk, Michael S. Rafii, Sid O’Bryant, Julie C. Price, Nicole Schupf, Charles M. Laymon, Sharon J. Krinsky-McHale, Florence Lai, H. Diana Rosas, Sigan L. Hartley, Shahid H. Zaman, Ira T. Lott, Wayne Silverman, Adam M. Brickman, Joseph H. Lee, Ricardo F. Allegri, Sarah B. Berman, Jasmeer P. Chhatwal, Carlos Cruchaga, Nick C. Fox, Alison M. Goate, Gregory S. Day, Neill R. Graff-Radford, Mathias Jucker, Jae-Hong Lee, Johannes Levin, Hiroshi Mori, Richard J. Perrin, Stephen Salloway, Peter R. Schofield, Chengjie Xiong, Celeste M. Karch, Jason Hassenstab, Eric McDade, Randall J. Bateman, Beau M. Ances, Alzheimer’s Biomarker Consortium-Down Syndrome, the Dominantly Inherited Alzheimer Network
Lancet Neurol.
Published in final edited form as: Lancet Neurol. 2023 Jan; 22(1): 55–65. doi: 10.1016/S1474-4422(22)00408-2
PMCID:
PMC9979840
10.
Xiaojing Li, Xiaowei Ye, Jimei Su
BMC Oral Health. 2022; 22: 522. Published online 2022 Nov 22. doi: 10.1186/s12903-022-02594-4
PMCID:
PMC9717407
11.
Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Int J Mol Sci. 2022 Nov; 23(22): 14215. Published online 2022 Nov 17. doi: 10.3390/ijms232214215
PMCID:
PMC9693521
12.
Liselot van der Laan, Kathleen Rooney, Mariëlle Alders, Raissa Relator, Haley McConkey, Jennifer Kerkhof, Michael A. Levy, Peter Lauffer, Mio Aerden, Miel Theunis, Eric Legius, Matthew L. Tedder, Lisenka E. L. M. Vissers, Saskia Koene, Claudia Ruivenkamp, Mariette J. V. Hoffer, Dagmar Wieczorek, Nuria C. Bramswig, Theresia Herget, Vanesa López González, Fernando Santos-Simarro, Pernille M. Tørring, Anne-Sophie Denomme-Pichon, Bertrand Isidor, Boris Keren, Sophie Julia, Elise Schaefer, Christine Francannet, Pierre-Yves Maillard, Mala Misra-Isrie, Hilde Van Esch, Marcel M. A. M. Mannens, Bekim Sadikovic, Mieke M. van Haelst, Peter Henneman
Int J Mol Sci. 2022 Nov; 23(22): 13664. Published online 2022 Nov 8. doi: 10.3390/ijms232213664
PMCID:
PMC9690904
13.
Sebastian Giraldo-Ocampo, Harry Pachajoa
BMC Pediatr. 2022; 22: 569. Published online 2022 Oct 4. doi: 10.1186/s12887-022-03620-8
PMCID:
PMC9531440
14.
Dong-Ying Tao, Huan-Hong Niu, Jing-Jing Zhang, Hui-Qin Zhang, Ming-Hua Zeng, Sheng-Quan Cheng
BMC Pediatr. 2022; 22: 486. Published online 2022 Aug 13. doi: 10.1186/s12887-022-03535-4
PMCID:
PMC9375425
15.
Katja Kloth, Bernarda Lozic, Julia Tagoe, Mariëtte J. V. Hoffer, Amelie Van der Ven, Holger Thiele, Janine Altmüller, Christian Kubisch, Ping Yee Billie Au, Jonas Denecke, Emilia K. Bijlsma, Davor Lessel
Neurogenetics. 2021; 22(4): 263–269. Published online 2021 Jul 3. doi: 10.1007/s10048-021-00655-4
PMCID:
PMC8426245
16.
Arianna Ricciardello, Pasquale Tomaiuolo, Antonio M. Persico
Am J Med Genet A. 2021 Jul; 185(7): 2211–2233. Published online 2021 May 5. doi: 10.1002/ajmg.a.62222
PMCID:
PMC8251815
17.
王 明梅, 朱 登纳, 李 三松, 张 广宇, 杨 磊, 赵 云霞, 刘 汉友
Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1131–1134. Chinese. doi: 10.7499/j.issn.1008-8830.2004163
PMCID:
PMC7569005
18.
陈 旻, 李 思涛, 蔡 尧, 肖 昕, 石 聪聪, 郝 虎
Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1114–1118. Chinese. doi: 10.7499/j.issn.1008-8830.2004078
PMCID:
PMC7568996
19.
Naomi Pode‐Shakked, Ortal Barel, Ben Pode‐Shakked, Aviva Eliyahu, Amihood Singer, Omri Nayshool, Nitzan Kol, Annick Raas‐Rothschild, Elon Pras, Mordechai Shohat
Mol Genet Genomic Med. 2019 Jun; 7(6): e665. Published online 2019 Apr 24. doi: 10.1002/mgg3.665
PMCID:
PMC6565580
20.
Jing Peng, Ying Wang, Fang He, Chen Chen, Li‐Wen Wu, Li‐Fen Yang, Yu‐Ping Ma, Wen Zhang, Zi‐Qing Shi, Chao Chen, Kun Xia, Hui Guo, Fei Yin, Nan Pang
CNS Neurosci Ther. 2018 Dec; 24(12): 1196–1206. Published online 2018 Apr 17. doi: 10.1111/cns.12860
PMCID:
PMC6489871

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