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Items: 1 to 20 of 4031

1.
Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Doherty
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 229–249. Published online 2019 Nov 11. doi: 10.1002/ajmg.a.61399
PMCID:
PMC7679947
2.
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
3.
Melissa A. Parisi
Transl Sci Rare Dis. 2019; 4(1-2): 25–49. Published online 2019 Jul 4. doi: 10.3233/TRD-190041
PMCID:
PMC6864416
4.
D. Vijaya Raghavan, V. Vimal Doshi, Shanthi Nambi
Indian J Psychiatry. 2016 Jan-Mar; 58(1): 90–92. doi: 10.4103/0019-5545.174395
PMCID:
PMC4776590
5.
Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, Genomics England Research Consortium, Eugen Boltshauser, John A Sayer
Brain Commun. 2021; 3(3): fcab163. Published online 2021 Jul 16. doi: 10.1093/braincomms/fcab163
PMCID:
PMC8374969
6.
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
7.
Veronica Epure, Doru Oprea, Dan Cristian Gheorghe
Clin Case Rep. 2023 Feb; 11(2): e6973. Published online 2023 Feb 15. doi: 10.1002/ccr3.6973
PMCID:
PMC9932242
8.
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
9.
Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun
Genes (Basel) 2018 Dec; 9(12): 605. Published online 2018 Dec 4. doi: 10.3390/genes9120605
PMCID:
PMC6315342
10.
Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Maryam Mokhtarzadeh, Daniel A. Doherty, Melissa Parisi, Ian A. Glass, May C. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay-Aygun
Ophthalmology.
Published in final edited form as: Ophthalmology. 2018 Dec; 125(12): 1937–1952. Published online 2018 Jul 25. doi: 10.1016/j.ophtha.2018.05.026
PMCID:
PMC8932443
11.
Jingjing Xiang, Lili Zhang, Wei Jiang, Qin Zhang, Ting Wang, Haibo Li, Hong Li
Biomed Res Int. 2018; 2018: 7202168. Published online 2018 May 31. doi: 10.1155/2018/7202168
PMCID:
PMC6000882
12.
Sai Win Kyaw Htet Aung, Joshua Orack, Dan Doherty, Travis Nelson, Jennifer C. Dempsey, Sophie R. Li, Donald L. Chi
Spec Care Dentist. 2025 May-Jun; 45(3): e70050. Published online 2025 Jun 3. doi: 10.1111/scd.70050
PMCID:
PMC12134190
13.
Ali Al-Smair, Sara Younes, Osama Saadeh, Ahmad Saadeh, Ahmad Al-Ali
Cureus. 2022 Apr; 14(4): e24226. Published online 2022 Apr 18. doi: 10.7759/cureus.24226
PMCID:
PMC9114833
14.
Kao-Jung Chang, Hsin-Yu Wu, Aliaksandr A. Yarmishyn, Cheng-Yi Li, Yu-Jer Hsiao, Yi-Chun Chi, Tzu-Chen Lo, He-Jhen Dai, Yi-Chiang Yang, Ding-Hao Liu, De-Kuang Hwang, Shih-Jen Chen, Chih-Chien Hsu, Chung-Lan Kao
Int J Mol Sci. 2022 Sep; 23(17): 9707. Published online 2022 Aug 26. doi: 10.3390/ijms23179707
PMCID:
PMC9456058
15.
Melissa A. Parisi
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229
PMCID:
PMC2797758
16.
Jia-Der Ju-Wang, Jennifer C. Dempsey, Cristian Zhang, Daniel Doherty, Manisha Witmans, Mary Anne Tablizo, Maida Lynn Chen
Ther Adv Respir Dis. 2025 Jan-Dec; 19: 17534666241308405. Published online 2025 Jan 16. doi: 10.1177/17534666241308405
PMCID:
PMC11748088
17.
Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann-Gagescu
Genet Med.
Published in final edited form as: Genet Med. 2018 Feb; 20(2): 223–233. Published online 2017 Aug 3. doi: 10.1038/gim.2017.94
PMCID:
PMC5797514
18.
Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty
J Med Genet.
Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250
PMCID:
PMC5060087
19.
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
20.
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

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