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Links from MedGen

Items: 1 to 20 of 139

1.
Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia, Ailian Du
BMC Med Genomics. 2021; 14: 242. Published online 2021 Oct 9. doi: 10.1186/s12920-021-01089-5
PMCID:
PMC8502301
2.
Likhita Shaik, Abhimanyu Ravalani, Shruti Nelekar, Vamsi Krishna Gorijala, Kaushal Shah
Cureus. 2020 Aug; 12(8): e9718. Published online 2020 Aug 13. doi: 10.7759/cureus.9718
PMCID:
PMC7489322
3.
Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson
Case Rep Pediatr. 2015; 2015: 385910. Published online 2015 May 17. doi: 10.1155/2015/385910
PMCID:
PMC4449927
4.
C Nag, M Ghosh, K Das, TN Ghosh
Ann Med Health Sci Res. 2013 Apr-Jun; 3(2): 291–294. doi: 10.4103/2141-9248.113686
PMCID:
PMC3728883
5.
Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun
BMC Pediatr. 2023; 23: 590. Published online 2023 Nov 23. doi: 10.1186/s12887-023-04415-1
PMCID:
PMC10666333
6.
Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
J Int Med Res. 2023 Oct; 51(10): 03000605231206294. Published online 2023 Nov 1. doi: 10.1177/03000605231206294
PMCID:
PMC10621312
7.
Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei, De Wu
BMC Med Genomics. 2023; 16: 221. Published online 2023 Sep 21. doi: 10.1186/s12920-023-01669-7
PMCID:
PMC10512497
8.
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
J Med Genet. 2023 Sep; 60(9): 885–893. Published online 2023 Feb 14. doi: 10.1136/jmg-2022-108725
PMCID:
PMC10447400
9.
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
10.
Balram Gangaram, W. Patrick Devine, Anne Slavotinek
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496
PMCID:
PMC10369588
11.
张 广宇, 赵 云霞, 赵 会玲, 唐 国皓, 王 鹏亮, 朱 登纳
Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 497–501. Chinese. doi: 10.7499/j.issn.1008-8830.2212069
PMCID:
PMC10247204
12.
Lidvana Spahiu, John A Sayer, Emir Behluli, Thomas Liehr, Gazmend Temaj
Version 2. F1000Res. 2022; 11: 388. Published online 2023 Mar 31. doi: 10.12688/f1000research.109628.2
PMCID:
PMC10196526
13.
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5
PMCID:
PMC10155342
14.
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Genes (Basel) 2023 Apr; 14(4): 810. Published online 2023 Mar 28. doi: 10.3390/genes14040810
PMCID:
PMC10137517
15.
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
16.
Yue Shen, Chao Lu, Tingting Cheng, Zongfu Cao, Cuixia Chen, Xu Ma, Huafang Gao, Minna Luo
BMC Med Genomics. 2023; 16: 4. Published online 2023 Jan 12. doi: 10.1186/s12920-023-01438-6
PMCID:
PMC9838056
17.
Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872
PMCID:
PMC9756141
18.
Simone Gana, Valentina Serpieri, Enza Maria Valente
Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 72–88. Published online 2022 Mar 3. doi: 10.1002/ajmg.c.31963
PMCID:
PMC9314610
19.
RaeLynn Forsyth, Melissa A. Parisi, Burak Altintas, May Christine Malicdan, Thierry Vilboux, Jasmine Knoll, Brian P. Brooks, Wadih M. Zein, William A. Gahl, Camilo Toro, Meral Gunay-Aygun
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 121–130. Published online 2022 Mar 21. doi: 10.1002/ajmg.c.31966
PMCID:
PMC9117497
20.
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

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