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Items: 1 to 20 of 44

1.
Sun Kim, Yeong Seok Lee, Dong Hyun Kim, Aram Yang, Tack Lee, Seun Deuk Hwang, Dae Gyu Kwon, Ji Eun Lee
Ann Pediatr Endocrinol Metab. 2019 Sep; 24(3): 207–211. Published online 2019 Sep 30. doi: 10.6065/apem.2019.24.3.207
PMCID:
PMC6790868
2.
L Esakowitz, J R Yates
Br J Ophthalmol. 1988 Mar; 72(3): 236–238. doi: 10.1136/bjo.72.3.236
PMCID:
PMC1041416
3.
D G Wellesley, S F Slaney
J Med Genet. 1995 Apr; 32(4): 314–315. doi: 10.1136/jmg.32.4.314
PMCID:
PMC1050385
4.
C Braun-Quentin, C Billes, B Böwing, D Kotzot
J Med Genet. 1996 Jul; 33(7): 618–620. doi: 10.1136/jmg.33.7.618
PMCID:
PMC1050676
5.
Anna Dabkowska-Huc, Piotr Skalba, Antoni Pyrkosz
Case Rep Genet. 2013; 2013: 105052. Published online 2013 Feb 17. doi: 10.1155/2013/105052
PMCID:
PMC3588193
6.
Anand Pai, Mohammad Shakir
Indian J Hum Genet. 2013 Jan-Mar; 19(1): 113–115. doi: 10.4103/0971-6866.112928
PMCID:
PMC3722622
7.
ROXANA DRAGUSIN, ȘTEFANIA TUDORACHE, V. SURLIN, CORINA LICHIARDOPOL, D.G. ILIESCU
Curr Health Sci J. 2014 Apr-Jun; 40(2): 144–147. Published online 2014 Mar 29. doi: 10.12865/CHSJ.40.02.13
PMCID:
PMC4340458
8.
Sunil Kumar, Shruti Sharma
Oxf Med Case Reports. 2016 Apr; 2016(4): 73–75. Published online 2016 Apr 20. doi: 10.1093/omcr/omw022
PMCID:
PMC4836604
9.
Alka V. Ekbote, Mohan S. Kamath, Sumita Danda
J Pediatr Genet. 2014 Sep; 3(3): 167–173. doi: 10.3233/PGE-14096
PMCID:
PMC5021002
10.
Ozair Bin Majid, Zayed S Al-Zayed, Mohamed Alsehly, Shahd H Almonaie
Cureus. 2021 Jun; 13(6): e15669. Published online 2021 Jun 15. doi: 10.7759/cureus.15669
PMCID:
PMC8282152
11.
Rahul Saini, Lovenish Bains, Tarangpreet Kaur, Pawan Lal, Veer Pal, Mohd Yasir Beg, Daljit Kaur
J Ovarian Res. 2021; 14: 114. Published online 2021 Sep 3. doi: 10.1186/s13048-021-00869-y
PMCID:
PMC8414687
12.
J. R. Rekha, Poonam Arora, Rajnish Kumar Arora, Monica Arora
Anesth Essays Res. 2021 Oct-Dec; 15(4): 454–456. Published online 2022 Mar 1. doi: 10.4103/aer.aer_137_21
PMCID:
PMC9004267
13.
Kaouthar Sfar, Kaoutar Imrani, Fatima Chait, Sara Essetti, Kaoutar Maslouhi, Nabil Moatassim Billah, Ittimade Nassar
SAGE Open Med Case Rep. 2024; 12: 2050313X241265047. Published online 2024 Jul 26. doi: 10.1177/2050313X241265047
PMCID:
PMC11282557
14.
Hari Soekersi, Radi Trihadrian
Radiol Case Rep. 2023 May; 18(5): 1877–1881. Published online 2023 Mar 7. doi: 10.1016/j.radcr.2023.01.107
PMCID:
PMC10017328
15.
Fede Berckx, Daniel Wibberg, Jörn Kalinowski, Katharina Pawlowski
Genes (Basel) 2020 Apr; 11(4): 432. Published online 2020 Apr 16. doi: 10.3390/genes11040432
PMCID:
PMC7231273
16.
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
HGG Adv. 2023 Jul 13; 4(3): 100188. Published online 2023 Mar 29. doi: 10.1016/j.xhgg.2023.100188
PMCID:
PMC10130500
17.
Benjamin D Solomon
Orphanet J Rare Dis. 2011; 6: 56. Published online 2011 Aug 16. doi: 10.1186/1750-1172-6-56
PMCID:
PMC3169446
18.
H E Peters, B N Johnson, E A Ehli, D Micha, M O Verhoeven, G E Davies, J J M L Dekker, A Overbeek, M H van den Berg, E van Dulmen-den Broeder, F E van Leeuwen, V Mijatovic, D I Boomsma, C B Lambalk
Hum Reprod. 2019 Jun; 34(6): 1117–1125. Published online 2019 May 21. doi: 10.1093/humrep/dez044
PMCID:
PMC6554047
19.
Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier
Orphanet J Rare Dis. 2011; 6: 9. Published online 2011 Mar 15. doi: 10.1186/1750-1172-6-9
PMCID:
PMC3072926
20.
Ella Thomson, Minh Tran, Gorjana Robevska, Katie Ayers, Jocelyn van der Bergen, Prarthna Gopalakrishnan Bhaskaran, Eric Haan, Silvia Cereghini, Alla Vash-Margita, Miranda Margetts, Alison Hensley, Quan Nguyen, Andrew Sinclair, Peter Koopman, Emanuele Pelosi
Hum Mol Genet. 2023 Mar 15; 32(6): 1032–1047. Published online 2022 Oct 25. doi: 10.1093/hmg/ddac262
PMCID:
PMC9990990

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