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Items: 1 to 20 of 37

1.
W.E. Schoonheyt, W.B. Hanley, J.T.R. Clarke, V. Austin, D.A. Howe
Can Fam Physician. 1986 Oct; 32: 2253, 2255, 2257-2258.
PMCID:
PMC2328240
2.
Yang Fang, Jinshuang Gao, Yaqing Guo, Xiaole Li, Enwu Yuan, Erfeng Yuan, Liying Song, Qianqian Shi, Haiyang Yu, Dehua Zhao, Linlin Zhang
Hum Genomics. 2023; 17: 34. Published online 2023 Mar 31. doi: 10.1186/s40246-023-00481-9
PMCID:
PMC10064562
3.
Nasser A. Elhawary, Imad A. AlJahdali, Iman S. Abumansour, Ezzeldin N. Elhawary, Nagwa Gaboon, Mohammed Dandini, Abdulelah Madkhali, Wafaa Alosaimi, Abdulmajeed Alzahrani, Fawzia Aljohani, Ehab M. Melibary, Osama A. Kensara
Hum Genomics. 2022; 16: 22. Published online 2022 Jul 19. doi: 10.1186/s40246-022-00398-9
PMCID:
PMC9295449
4.
Marcela Vela-Amieva, Miguel Angel Alcántara-Ortigoza, Isabel Ibarra-González, Ariadna González-del Angel, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Rosa Itzel Carrillo-Nieto, Leticia Belmont-Martínez, Cynthia Fernández-Lainez
Genes (Basel) 2021 Nov; 12(11): 1676. Published online 2021 Oct 23. doi: 10.3390/genes12111676
PMCID:
PMC8620669
5.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Carducci, Ana E. Chiesa, John Christodoulou, Maja Đorđević, Lourdes R. Desviat, Aviva Eliyahu, Roeland A.F. Evers, Lena Fajkusova, François Feillet, Pedro E. Bonfim-Freitas, Maria Giżewska, Polina Gundorova, Daniela Karall, Katya Kneller, Sergey I. Kutsev, Vincenzo Leuzzi, Harvey L. Levy, Uta Lichter-Konecki, Ania C. Muntau, Fares Namour, Mariusz Oltarzewski, Andrea Paras, Belen Perez, Emil Polak, Alexander V. Polyakov, Francesco Porta, Marianne Rohrbach, Sabine Scholl-Bürgi, Norma Spécola, Maja Stojiljković, Nan Shen, Luiz C. Santana-da Silva, Anastasia Skouma, Francjan van Spronsen, Vera Stoppioni, Beat Thöny, Friedrich K. Trefz, Jerry Vockley, Youngguo Yu, Johannes Zschocke, Georg F. Hoffmann, Sven F. Garbade, Nenad Blau
Am J Hum Genet. 2020 Aug 6; 107(2): 234–250. Published online 2020 Jul 14. doi: 10.1016/j.ajhg.2020.06.006
PMCID:
PMC7413859
6.
Ting Chen, Weize Xu, Dingwen Wu, Jiamin Han, Ling Zhu, Fan Tong, Rulai Yang, Zhengyan Zhao, Pingping Jiang, Qiang Shu
Sci Rep. 2018; 8: 17137. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35373-9
PMCID:
PMC6244417
7.
Nana Li, Chunhua He, Jing Li, Jing Tao, Zhen Liu, Chunyan Zhang, Yuan Yuan, Hui Jiang, Jun Zhu, Ying Deng, Yixiong Guo, Qintong Li, Ping Yu, Yanping Wang
Sci Rep. 2018; 8: 11251. Published online 2018 Jul 26. doi: 10.1038/s41598-018-29640-y
PMCID:
PMC6062512
8.
Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, Pascal Perrin, Shyue-Fang Battaglia-Hsu, Bernard Herbeth, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loïc de Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Jean-Louis Guéant, Fares Namour
Orphanet J Rare Dis. 2015; 10: 158. Published online 2015 Dec 15. doi: 10.1186/s13023-015-0375-x
PMCID:
PMC5024853
9.
E Kayaalp, E Treacy, P J Waters, S Byck, P Nowacki, C R Scriver
Am J Hum Genet. 1997 Dec; 61(6): 1309–1317. doi: 10.1086/301638
PMCID:
PMC1716084
10.
L A Tyfield, J Zschocke, A Stephenson, F Cockburn, A Harvie, J L Bidwell, N A Wood, L P Hunt
J Med Genet. 1995 Nov; 32(11): 867–870. doi: 10.1136/jmg.32.11.867
PMCID:
PMC1051737
11.
C Zekanowski, M Nowacka, B Cabalska, J Bal
J Med Genet. 1997 Dec; 34(12): 1035–1036. doi: 10.1136/jmg.34.12.1035
PMCID:
PMC1051162
12.
Cristiane Mendes de Almeida Duarte, Flavia Balbo Piazzon, Isadora Salvador Rocco, Claudia Berlim de Mello
J Pediatr (Rio J) 2023 Sep-Oct; 99(5): 507–513. Published online 2023 May 10. doi: 10.1016/j.jped.2023.04.003
PMCID:
PMC10492152
13.
Thoalnoon O. A, Kareem A. A, Hammoodi H. Z
Arch Razi Inst. 2023 Apr; 78(2): 667–673. Published online 2023 Apr 30. doi: 10.22092/ARI.2022.359480.2431
PMCID:
PMC10314256
14.
Alin Iuhas, Claudia Jurca, Kinga Kozma, Anca-Lelia Riza, Ioana Streață, Codruța Petcheși, Andra Dan, Cristian Sava, Andreea Balmoș, Cristian Marinău, Larisa Niulaș, Mihai Ioana, Marius Bembea
Diagnostics (Basel) 2023 Apr; 13(8): 1483. Published online 2023 Apr 20. doi: 10.3390/diagnostics13081483
PMCID:
PMC10137343
15.
Elena Dios-Fuentes, Montserrat Gonzalo Marin, Pablo Remón-Ruiz, Rosa Benitez Avila, Maria A Bueno Delgado, Javier Blasco Alonso, Viyei Kishore Doulatram Gamgaram, Gabriel Olveira, Alfonso Soto-Moreno, Eva Venegas-Moreno
Nutrients. 2022 Mar; 14(6): 1311. Published online 2022 Mar 21. doi: 10.3390/nu14061311
PMCID:
PMC8952233
16.
Shoji Yano, Kathryn Moseley, Teodoro Bottiglieri, Erland Arning, Colleen Azen
J Inherit Metab Dis.
Published in final edited form as: J Inherit Metab Dis. 2014 Jan; 37(1): 39–42. Published online 2013 Jun 20. doi: 10.1007/s10545-013-9627-x
PMCID:
PMC8889884
17.
Barbka Repic Lampret, Mojca Zerjav Tansek, Blaz Groselj, Jaka Sikonja, Tadej Battelino, Urh Groselj
Data Brief. 2022 Apr; 41: 107926. Published online 2022 Feb 4. doi: 10.1016/j.dib.2022.107926
PMCID:
PMC8841992
18.
Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo
Orphanet J Rare Dis. 2021; 16: 477. Published online 2021 Nov 18. doi: 10.1186/s13023-021-02108-5
PMCID:
PMC8600879
19.
Viviane Kanufre, Manuela Ferreira Almeida, Catarina Sousa Barbosa, Carla Carmona, Anabela Bandeira, Esmeralda Martins, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Anita MacDonald, Alex Pinto, Júlio César Rocha
Nutrients. 2021 Sep; 13(9): 3118. Published online 2021 Sep 6. doi: 10.3390/nu13093118
PMCID:
PMC8469656
20.
Maria João Pena, Alex Pinto, Manuela Ferreira de Almeida, Catarina de Sousa Barbosa, Paula Cristina Ramos, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Cláudia Camila Dias, Anita MacDonald, Nuno Borges, Júlio César Rocha
Orphanet J Rare Dis. 2021; 16: 84. Published online 2021 Feb 13. doi: 10.1186/s13023-021-01721-8
PMCID:
PMC7881530

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