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Links from MedGen

Items: 1 to 20 of 62

2.
A E Czeizel, P Göblyös
J Med Genet. 1997 Dec; 34(12): 1033–1034. doi: 10.1136/jmg.34.12.1033
PMCID:
PMC1051161
3.
David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance
Am J Hum Genet. 2002 Sep; 71(3): 618–624. Published online 2002 Jun 27. doi: 10.1086/342067
PMCID:
PMC379196
4.
Neelam Awan, Effie Pearson, Lauren Shelley, Courtney Greenhill, Joanne Tarver, Jane Waite
Am J Med Genet A. 2022 Sep; 188(9): 2536–2554. Published online 2022 Jun 21. doi: 10.1002/ajmg.a.62867
PMCID:
PMC9542155
5.
K. Taylor Wild, Tomoki T. Nomakuchi, Sarah E. Sheppard, Karla F. Leavens, Diva D. De León, Elaine H. Zackai
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Apr; 185(4): 1251–1255. Published online 2021 Jan 14. doi: 10.1002/ajmg.a.62085
PMCID:
PMC8621558
6.
Naye Choi, Hwa Young Kim, Byung Chan Lim, Jong‐Hee Chae, Soo Yeon Kim, Jung Min Ko
Mol Genet Genomic Med. 2021 Oct; 9(10): e1791. Published online 2021 Aug 24. doi: 10.1002/mgg3.1791
PMCID:
PMC8580098
7.
Siham Chafai Elalaoui, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, Abdelaziz Sefiani
Afr Health Sci. 2021 Jun; 21(2): 960–967. doi: 10.4314/ahs.v21i2.58
PMCID:
PMC8568211
8.
Jong Eun Park, Eunmi Kim, Dong-Won Lee, Taek Kyu Park, Min Sun Kim, Shin Yi Jang, Jaemyung Ahn, Kwang Bo Park, Keon-Ha Kim, Hae-Chul Park, Chang-Seok Ki, Duk-Kyung Kim
Sci Rep. 2021; 11: 15931. Published online 2021 Aug 5. doi: 10.1038/s41598-021-95133-0
PMCID:
PMC8342626
9.
Jacob W P Potuijt, Jeannette Hoogeboom, Esther de Graaff, Christianne A van Nieuwenhoven, Robert Jan H Galjaard
J Med Genet. 2020 Oct; 57(10): 660–663. Published online 2020 Mar 16. doi: 10.1136/jmedgenet-2019-106685
PMCID:
PMC7525795
10.
李 媛, 何 山, 朱 鸿玲
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Nov 25; 19(11): 1155–1158. Chinese. doi: 10.7499/j.issn.1008-8830.2017.11.006
PMCID:
PMC7389331
11.
Sha Yu, Bingbing Wu, Yanyan Qian, Ping Zhang, Yulan Lu, Xinran Dong, Qing Wang, Xuemei Zhao, Renchao Liu, Wenhao Zhou, Huijun Wang
Mol Genet Genomic Med. 2019 Dec; 7(12): e1009. Published online 2019 Oct 22. doi: 10.1002/mgg3.1009
PMCID:
PMC6900364
12.
Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Mol Genet Genomic Med. 2019 Nov; 7(11): e972. Published online 2019 Sep 30. doi: 10.1002/mgg3.972
PMCID:
PMC6825870
13.
Kinga Hadzsiev, Zsuzsanna Gyorsok, Agnes Till, Márta Czakó, Oliver Bartsch
Clin Dysmorphol. 2019 Jul; 28(3): 137–141. Published online 2019 Feb 19. doi: 10.1097/MCD.0000000000000262
PMCID:
PMC6553355
14.
María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel, Elena Domínguez-Garrido
BMC Med Genet. 2018; 19: 36. Published online 2018 Mar 5. doi: 10.1186/s12881-018-0548-2
PMCID:
PMC5839060
15.
Eric W. Fish, Scott E. Parnell, Kathleen K. Sulik, Lorinda K. Baker, Laura B. Murdaugh, David S. Lamson, Kevin P Williams
Birth Defects Res.
Published in final edited form as: Birth Defects Res. 2017 Jan 20; 109(1): 49–54. doi: 10.1002/bdra.23571
PMCID:
PMC5388559
16.
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
BMC Med Genet. 2016; 17: 97. Published online 2016 Dec 13. doi: 10.1186/s12881-016-0361-8
PMCID:
PMC5154174
17.
Tamar I de Vries, Glen R Monroe, Martine J van Belzen, Christian A van der Lans, Sanne MC Savelberg, William G Newman, Gijs van Haaften, Rutger A Nievelstein, Mieke M van Haelst
Eur J Hum Genet. 2016 Aug; 24(9): 1363–1366. Published online 2016 Mar 9. doi: 10.1038/ejhg.2016.14
PMCID:
PMC4989203
18.
Donatella Milani, Francesca Maria Paola Manzoni, Lidia Pezzani, Paola Ajmone, Cristina Gervasini, Francesca Menni, Susanna Esposito
Ital J Pediatr. 2015; 41: 4. Published online 2015 Jan 20. doi: 10.1186/s13052-015-0110-1
PMCID:
PMC4308897
19.
Pierluigi Marzuillo, Anna Grandone, Ruggero Coppola, Domenico Cozzolino, Adalgisa Festa, Federica Messa, Caterina Luongo, Emanuele Miraglia del Giudice, Laura Perrone
BMC Med Genet. 2013; 14: 28. Published online 2013 Feb 23. doi: 10.1186/1471-2350-14-28
PMCID:
PMC3598247
20.
S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki
Clin Genet. 2012 Dec; 82(6): 514–520. Published online 2012 Jan 30. doi: 10.1111/j.1399-0004.2011.01831.x
PMCID:
PMC3532604

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