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Items: 1 to 20 of 138

1.
Xinyan Zhang, Marcel Smits, Leopold Curfs, Karen Spruyt
Int J Environ Res Public Health. 2022 Oct; 19(20): 13082. Published online 2022 Oct 12. doi: 10.3390/ijerph192013082
PMCID:
PMC9602589
2.
Nicole H. Ducich, Jason A. Mears, Jirair K. Bedoyan
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2022 May; 45(3): 557–570. Published online 2022 Feb 1. doi: 10.1002/jimd.12477
PMCID:
PMC9297371
3.
Ye Hyun Hwang, Bruce Eliot Hayward, Marwa Zafarullah, Jay Kumar, Blythe Durbin Johnson, Peter Holmans, Karen Usdin, Flora Tassone
Sci Rep. 2022; 12: 10419. Published online 2022 Jun 21. doi: 10.1038/s41598-022-14183-0
PMCID:
PMC9213438
4.
Dragana Protic, Maria Jimena Salcedo-Arellano, Maja Stojkovic, Wilmar Saldarriaga, Laura Alejandra Ávila Vidal, Robert M. Miller, Nazi Tabatadze, Marina Peric, Randi Hagerman, Dejan B. Budimirovic
Yale J Biol Med. 2021 Dec; 94(4): 559–571. Published online 2021 Dec 29.
PMCID:
PMC8686783
5.
Angela Peron, Maria Paola Canevini, Filippo Ghelma, Rosangela Arancio, Miriam Nella Savini, Aglaia Vignoli
J Med Genet. 2022 Jan; 59(1): 39–45. Published online 2020 Oct 26. doi: 10.1136/jmedgenet-2020-107333
PMCID:
PMC8685662
6.
Tim W. Rattay, Maren Rautenberg, Anne S. Söhn, Holger Hengel, Andreas Traschütz, Benjamin Röben, Stefanie N. Hayer, Rebecca Schüle, Sarah Wiethoff, Lena Zeltner, Tobias B. Haack, Alexander Cegan, Ludger Schöls, Erwin Schleicher, Andreas Peter
Sci Rep. 2020; 10: 15093. Published online 2020 Sep 15. doi: 10.1038/s41598-020-71248-8
PMCID:
PMC7494896
7.
Karen Kengne Kamga, Séraphin Nguefack, Khuthala Minka, Edmond Wonkam Tingang, Alina Esterhuizen, Syntia Nchangwi Munung, Jantina De Vries, Ambroise Wonkam
Genes (Basel) 2020 Feb; 11(2): 136. Published online 2020 Jan 28. doi: 10.3390/genes11020136
PMCID:
PMC7074341
8.
Kathleen J. Motil, Jane B. Lane, Judy O. Barrish, Fran Annese, Suzanne Geerts, Lauren McNair, Steven A. Skinner, Jeffrey L. Neul, Daniel G. Glaze, Alan K. Percy
J Pediatr Gastroenterol Nutr.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2019 Jun; 68(6): 799–805. doi: 10.1097/MPG.0000000000002273
PMCID:
PMC6534452
9.
Leslie E. W. LaConte, Vrushali Chavan, Stephanie DeLuca, Karol Rubin, Jessica Malc, Susan Berry, C. Gail Summers, Konark Mukherjee
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2019 Jan; 179(1): 94–103. Published online 2018 Dec 14. doi: 10.1002/ajmg.a.60687
PMCID:
PMC6347510
10.
Aimé Lumaka, Valerie Race, Hilde Peeters, Anniek Corveleyn, Zeynep Coban-Akdemir, Shalini N. Jhangiani, Song Xiaofei, Gerrye Mubungu, Jennifer Posey, James R Lupski, Joris R Vermeesch, Prosper Lukusa, Koenraad Devriendt
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2018 Sep; 176(9): 1897–1909. Published online 2018 Aug 8. doi: 10.1002/ajmg.a.40382
PMCID:
PMC6325645
11.
Y.Y.L. Lai, K. Wong, N. M. King, J. Downs, H. Leonard
BMC Oral Health. 2018; 18: 195. Published online 2018 Nov 29. doi: 10.1186/s12903-018-0651-y
PMCID:
PMC6267076
12.
Yujin Lee, Jaemoon Koh, Seong-Ik Kim, Jae Kyung Won, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park
Acta Neuropathol Commun. 2017; 5: 62. Published online 2017 Aug 29. doi: 10.1186/s40478-017-0465-1
PMCID:
PMC5574236
13.
John T. Killian, Jane B. Lane, Hye-Seung Lee, Steve A. Skinner, Walter E. Kaufmann, Daniel G. Glaze, Jeffrey L. Neul, Alan K. Percy
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2017 May; 70: 20–25. Published online 2017 Feb 7. doi: 10.1016/j.pediatrneurol.2017.01.032
PMCID:
PMC5461984
14.
Mary Anne D. Chiong, Daffodil M. Canson, Mary Ann R. Abacan, Melissa Mae P. Baluyot, Cynthia P. Cordero, Catherine Lynn T. Silao
Orphanet J Rare Dis. 2017; 12: 7. Published online 2017 Jan 11. doi: 10.1186/s13023-016-0558-0
PMCID:
PMC5225557
15.
Lisbeth Birk Møller, Malgorzata Lenartowicz, Marie-Therese Zabot, Arnaud Josiane, Lydie Burglen, Chris Bennett, Daniel Riconda, Richard Fisher, Sandra Janssens, Shehla Mohammed, Margreet Ausems, Zeynep Tümer, Nina Horn, Thomas G Jensen
Orphanet J Rare Dis. 2012; 7: 6. Published online 2012 Jan 22. doi: 10.1186/1750-1172-7-6
PMCID:
PMC3298521
16.
Jee Hyun Lee, Yon Ho Choe, Su Jin Kim, Kyung Hoon Paik, Dong-Kyu Jin
Yonsei Med J. 2011 Mar 1; 52(2): 263–267. Published online 2011 Jan 29. doi: 10.3349/ymj.2011.52.2.263
PMCID:
PMC3051226
17.
Weerasak Chonchaiya, Flora Tassone, Paul Ashwood, David Hessl, Andrea Schneider, Luis Campos, Danh V. Nguyen, Randi J. Hagerman
Hum Genet. 2010; 128(5): 539–548. Published online 2010 Sep 1. doi: 10.1007/s00439-010-0882-8
PMCID:
PMC2955238
18.
P.E. Adams, J.S. Adams, D.V. Nguyen, D. Hessl, J.A. Brunberg, F. Tassone, W. Zhang, K. Koldewyn, S.M. Rivera, J. Grigsby, L. Zhang, C. DeCarli, P.J. Hagerman, R.J. Hagerman
Am J Med Genet B Neuropsychiatr Genet.
Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2010 Apr 5; 153B(3): 775–785. doi: 10.1002/ajmg.b.31046
PMCID:
PMC2868927
19.
L M Mulligan, M A Phillips, C J Forster-Gibson, J Beckett, M W Partington, N E Simpson, J J Holden, B N White
Am J Hum Genet. 1985 May; 37(3): 463–472.
PMCID:
PMC1684592
20.
K Snow, L K Doud, R Hagerman, R G Pergolizzi, S H Erster, S N Thibodeau
Am J Hum Genet. 1993 Dec; 53(6): 1217–1228.
PMCID:
PMC1682501

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