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Items: 1 to 20 of 34

1.
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos‐Xavier, Andrea Superti‐Furga
Am J Med Genet A. 2022 Jan; 188(1): 319–325. Published online 2021 Sep 28. doi: 10.1002/ajmg.a.62506
PMCID:
PMC9291540
2.
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
3.
Cheng Lei, Ting Guo, Shuizi Ding, Liyan Liao, Hong Peng, Zhiping Tan, Hong Luo
Mol Genet Genomic Med. 2021 Jan; 9(1): e1553. Published online 2020 Nov 20. doi: 10.1002/mgg3.1553
PMCID:
PMC7963421
4.
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
5.
Shuiyan Wu, Ying Liu, Qian Zhang, Xiangying Meng, Linlin Huang, Zhong Xu, Chunxu Zhang, Ying Li, Ting Chen, Zhenjiang Bai
Mol Genet Genomic Med. 2020 May; 8(5): e1204. Published online 2020 Mar 11. doi: 10.1002/mgg3.1204
PMCID:
PMC7216809
6.
Meina Lin, Yongping Lu, Yu Sui, Ning Zhao, Ying Jin, Dongxu Yi, Miao Jiang
Mol Genet Genomic Med. 2019 Sep; 7(9): e843. Published online 2019 Jul 18. doi: 10.1002/mgg3.843
PMCID:
PMC6732274
7.
Karen Rymer, Rita Shiang, Anting Hsiung, Arti Pandya, Tim Bigdeli, Bradley T. Webb, Jennifer Rhodes
Mol Genet Genomic Med. 2019 Jun; 7(6): e656. Published online 2019 Apr 23. doi: 10.1002/mgg3.656
PMCID:
PMC6565579
8.
Savitha Shastry, Vinaya Simha, Koumudi Godbole, Paolo Sbraccia, Serge Melancon, Chittaranjan S. Yajnik, Giuseppe Novelli, Matthias Kroiss, Abhimanyu Garg
J Clin Endocrinol Metab. 2010 Oct; 95(10): E192–E197. Published online 2010 Jul 14. doi: 10.1210/jc.2010-0419
PMCID:
PMC3050107
9.
Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome-Majewska
Am J Hum Genet. 2010 Oct 8; 87(4): 553–559. doi: 10.1016/j.ajhg.2010.09.005
PMCID:
PMC2948800
10.
Abhimanyu Garg, Lalitha Subramanyam, Anil K. Agarwal, Vinaya Simha, Benjamin Levine, Maria Rosaria D'Apice, Giuseppe Novelli, Yanick Crow
J Clin Endocrinol Metab. 2009 Dec; 94(12): 4971–4983. Published online 2009 Oct 29. doi: 10.1210/jc.2009-0472
PMCID:
PMC2795646
11.
R J Richardson, J M Kirk
Arch Dis Child. 1990 Oct; 65(10): 1113–1117. doi: 10.1136/adc.65.10.1113
PMCID:
PMC1792332
12.
13.
Ajay Gupta, Christine M Hall, Yvonne F Ransley, Victoria A Murday
J Med Genet. 1995 Oct; 32(10): 809–812. doi: 10.1136/jmg.32.10.809
PMCID:
PMC1051707
14.
H N Bass, R S Sparkes, M M Lessner, M Fox, B Phoenix, J Bernar
J Med Genet. 1985 Feb; 22(1): 59–63. doi: 10.1136/jmg.22.1.59
PMCID:
PMC1049379
15.
D Kanjilal, M A Basir, R S Verma, B K Rajegowda, R Lala, A Nagaraj
J Med Genet. 1992 Sep; 29(9): 669–670. doi: 10.1136/jmg.29.9.669
PMCID:
PMC1016103
16.
Tarvis Peacock, Ubaid Khokhar, Jaclyn Murphy, Zach Murphy
HCA Healthc J Med. 2022; 3(1): 29–33. Published online 2022 Feb 26. doi: 10.36518/2689-0216.1311
PMCID:
PMC10324677
17.
Ayberk Türkyılmaz, Emine Ayça Cimbek, Alper Han Çebi, Elif Acar Arslan, Gülay Karagüzel
Mol Syndromol. 2023 Feb; 14(1): 35–43. Published online 2022 Jul 6. doi: 10.1159/000525393
PMCID:
PMC9912003
18.
Seoyun Jang, Yo Han Ahn, Jung Min Ko, Jae Sung Ko, Sojung Lim, Hee Gyung Kang
Front Pediatr. 2022; 10: 1032653. Published online 2022 Oct 31. doi: 10.3389/fped.2022.1032653
PMCID:
PMC9660256
19.
Sara Alghamdi
Children (Basel) 2022 Apr; 9(4): 448. Published online 2022 Mar 22. doi: 10.3390/children9040448
PMCID:
PMC9028158
20.
Uttara Gautam, Rishikesh Kafley, Vijay Chikanbanjar, Alyssa Shakya, Rydam Basnet, Sunil Raja Manandhar
JNMA J Nepal Med Assoc. 2020 Mar; 58(223): 178–180. Published online 2020 Mar 31. doi: 10.31729/jnma.4683
PMCID:
PMC7580308

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