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Items: 1 to 20 of 143

1.
Ho-Poh Kek, Wan-Long Tsai, Pao-Chin Chiu, Wen-Harn Koh, Ching-Chung Tsai
Children (Basel) 2024 Mar; 11(3): 285. Published online 2024 Feb 26. doi: 10.3390/children11030285
PMCID:
PMC10969010
2.
Susmita Khamrui, Tetyana Dodatko, Ruoxi Wu, João Leandro, Amanda Sabovic, Sara Violante, Justin R. Cross, Eric Marsan, Kunal Kumar, Robert J. DeVita, Michael B. Lazarus, Sander M. Houten
Version 1. bioRxiv. Preprint. 2024 Feb 7. doi: 10.1101/2024.02.07.578422
PMCID:
PMC10871334
3.
Mercedes Barzi, Collin G. Johnson, Tong Chen, Ramona M. Rodriguiz, Madeline Hemmingsen, Trevor J Gonzalez, Alan Rosales, James Beasley, Cheryl K. Peck, Yunhan Ma, Ashlee R. Stiles, Timothy C. Wood, Raquel Maeso-Diaz, Anna Mae Diehl, Sarah P. Young, Jeffrey I. Everitt, William C. Wetsel, William R. Lagor, Beatrice Bissig-Choisat, Aravind Asokan, Areeg El-Gharbawy, Karl-Dimiter Bissig
Sci Transl Med.
Published in final edited form as: Sci Transl Med. 2023 Apr 19; 15(692): eadf4086. Published online 2023 Apr 19. doi: 10.1126/scitranslmed.adf4086
PMCID:
PMC10676743
4.
Madalena Barroso, Marcus Gertzen, Alexandra F. Puchwein-Schwepcke, Heike Preisler, Andreas Sturm, Dunja D. Reiss, Marta K. Danecka, Ania C. Muntau, Søren W. Gersting
Int J Mol Sci. 2023 Sep; 24(17): 13158. Published online 2023 Aug 24. doi: 10.3390/ijms241713158
PMCID:
PMC10487539
5.
Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu
Orphanet J Rare Dis. 2023; 18: 215. Published online 2023 Jul 26. doi: 10.1186/s13023-023-02833-z
PMCID:
PMC10373284
6.
Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz, Mehmet Nuri Ozbek, Asude Durmaz, Ayçe Aykut, Melis Kose
Mol Genet Metab Rep. 2023 Sep; 36: 100979. Published online 2023 May 23. doi: 10.1016/j.ymgmr.2023.100979
PMCID:
PMC10238566
7.
Engin Demir, Neslihan Doğulu, Ceyda Tuna Kırsaçlıoğlu, Vehap Topçu, Fatma Tuba Eminoglu, Zarife Kuloğlu, Aydan Kansu
Mol Syndromol. 2023 Apr; 14(2): 136–142. Published online 2022 Nov 10. doi: 10.1159/000526393
PMCID:
PMC10090967
8.
Sijia Zhu, Dongxue Ding, Jianhua Jiang, Meirong Liu, Liqiang Yu, Qi Fang
Front Neurol. 2023; 14: 1087421. Published online 2023 Jan 27. doi: 10.3389/fneur.2023.1087421
PMCID:
PMC9911658
9.
João Leandro, Susmita Khamrui, Chalada Suebsuwong, Peng-Jen Chen, Cody Secor, Tetyana Dodatko, Chunli Yu, Roberto Sanchez, Robert J. DeVita, Sander M. Houten, Michael B. Lazarus
Open Biol. 2022 Sep; 12(9): 220179. Published online September 21, 2022. doi: 10.1098/rsob.220179
PMCID:
PMC9490328
10.
Lydia Healy, Meabh O'Shea, Jennifer McNulty, Graham King, Eilish Twomey, Eileen Treacy, Ellen Crushell, Joanne Hughes, Ina Knerr, Ahmad Ardeshir Monavari
JIMD Rep. 2022 Jul; 63(4): 379–387. Published online 2022 Jun 14. doi: 10.1002/jmd2.12302
PMCID:
PMC9259398
11.
Rute Sousa Martins, Arlindo Guimas, Sara Rocha, Rosa Ribeiro, Esmeralda Martins, Manuela Almeida, Dulce Quelhas
J Med Cases. 2022 Feb; 13(2): 56–60. Published online 2022 Feb 16. doi: 10.14740/jmc3840
PMCID:
PMC8913008
12.
Lingtong Huang, Wei Wu, Yijing Zhu, Huili Yu, Lingling Tang, Xueling Fang
Front Immunol. 2021; 12: 810677. Published online 2022 Jan 13. doi: 10.3389/fimmu.2021.810677
PMCID:
PMC8792439
13.
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut
Int J Neonatal Screen. 2022 Mar; 8(1): 2. Published online 2021 Dec 31. doi: 10.3390/ijns8010002
PMCID:
PMC8788418
14.
Qian Li, Chunlan Yang, Lijuan Feng, Yazi Zhao, Yong Su, Hong Liu, Hongkang Men, Yan Huang, Heinrich Körner, Xinming Wang
Front Nutr. 2021; 8: 704984. Published online 2021 Dec 15. doi: 10.3389/fnut.2021.704984
PMCID:
PMC8714794
15.
Changrui Xiao, Esteban Astiazaran-Symonds, Shrabani Basu, Monisha Kisling, Fernando Scaglia, Kimberly A. Chapman, Yudong Wang, Jerry Vockley, Carlos R. Ferreira
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2020 Oct; 182(10): 2426–2431. Published online 2020 Aug 17. doi: 10.1002/ajmg.a.61786
PMCID:
PMC8543298
16.
E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy
Sci Rep. 2021; 11: 19300. Published online 2021 Sep 29. doi: 10.1038/s41598-021-98809-9
PMCID:
PMC8481501
17.
Amanat Ali, Fatmah Saeed Ali Almesmari, Nahid Al Dhahouri, Arwa Mohammad Saleh Ali, Mohammed Ahmed Ali Mohamed Ahmed Aldhanhani, Ranjit Vijayan, Amal Al Tenaiji, Aisha Al Shamsi, Jozef Hertecant, Fatma Al Jasmi
Genes (Basel) 2021 Sep; 12(9): 1334. Published online 2021 Aug 27. doi: 10.3390/genes12091334
PMCID:
PMC8466204
18.
Sima Rayat, Saeid Morovvati
Clin Case Rep. 2021 Sep; 9(9): e04749. Published online 2021 Sep 7. doi: 10.1002/ccr3.4749
PMCID:
PMC8423083
19.
A.A. Ntorkou, J. Daire, F. Renaldo, D. Doummar, M. Alison, M. Schiff, M. Elmaleh-Bergès
AJNR Am J Neuroradiol. 2021 Sep; 42(9): 1722–1726. doi: 10.3174/ajnr.A7199
PMCID:
PMC8423046
20.
Parag M. Tamhankar, Lakshmi Vasudevan, Pratima Kondurkar, Sarfaraj Niazi, Rita Christopher, Dhaval Solanki, Pooja Dholakia, Mamta Muranjan, Mahesh Kamate, Umesh Kalane, Jayesh Sheth, Vasundhara Tamhankar, Reena Gulati, Madhavi Vasikarla, Sumita Danda, Shaik M. Naushad, Katta M. Girisha, Shekhar Patil
J Pediatr Genet. 2021 Sep; 10(3): 213–221. Published online 2020 Sep 2. doi: 10.1055/s-0040-1715528
PMCID:
PMC8416222

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