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Links from MedGen

Items: 1 to 20 of 500

1.
Helen I. Roessler, Lieke M. van der Heuvel, Kathleen Shields, Kristin P. Guilliams, Nine V.A.M. Knoers, Gijs van Haaften, Dorothy K. Grange, Mieke M. van Haelst
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2021 Aug; 185(8): 2434–2444. Published online 2021 May 30. doi: 10.1002/ajmg.a.62348
PMCID:
PMC8631004
2.
Nicholas J Theis, Toby Calvert, Peter McIntyre, Stephen P Robertson, Benjamin J Wheeler
Endocrinol Diabetes Metab Case Rep. 2019; 2019: 19-0103. Published online 2019 Nov 12. doi: 10.1530/EDM-19-0103
PMCID:
PMC6865860
3.
Alan Ma, Sunita Gurnasinghani, Edwin P. Kirk, Conor McClenaghan, Gautam K. Singh, Dorothy K. Grange, Chetan Pandit, Yung Zhu, Tony Roscioli, George Elakis, Michael Buckley, Bhavesh Mehta, Philip Roberts, Jonathan Mervis, Andrew Biggin, Colin G. Nichols
Am J Med Genet A. 2019 Aug; 179(8): 1585–1590. Published online 2019 Jun 7. doi: 10.1002/ajmg.a.61200
PMCID:
PMC6899598
4.
Helen I. Roessler, Kathleen Shields, Dorothy K. Grange, Nine V.A.M. Knoers, Gijs van Haaften, Peter Hammond, Mieke M. van Haelst
Am J Med Genet A. 2020 May; 182(5): 1041–1052. Published online 2020 Feb 26. doi: 10.1002/ajmg.a.61517
PMCID:
PMC7217184
5.
Marien J. C. Houtman, Xingyu Chen, Muge Qile, Karen Duran, Gijs van Haaften, Anna Stary‐Weinzinger, Marcel A. G. van der Heyden
J Cell Mol Med. 2019 Aug; 23(8): 4962–4969. Published online 2019 May 22. doi: 10.1111/jcmm.14329
PMCID:
PMC7346732
6.
Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V. A. M. Knoers, Jin-Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah F. Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 658–681. doi: 10.1002/ajmg.c.31753
PMCID:
PMC7654223
7.
Nathaniel W. York, Helen Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan, Dorothy K. Grange, Maria Sara Remedi, Sarah K. England, Hongzhen Hu, Colin G. Nichols
JCI Insight. 2020 Dec 3; 5(23): e141443. Published online 2020 Nov 10. doi: 10.1172/jci.insight.141443
PMCID:
PMC7714409
8.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Antonietta Mele, Giulia Maria Camerino, Francesco Alfredo Zito, Girolamo Ranieri, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico
Front Pharmacol. 2020; 11: 604885. Published online 2020 Nov 30. doi: 10.3389/fphar.2020.604885
PMCID:
PMC7734337
9.
Haixia Zhang, Alex Hanson, Tobias Scherf de Almeida, Christopher Emfinger, Conor McClenaghan, Theresa Harter, Zihan Yan, Paige E. Cooper, G. Schuyler Brown, Eric C. Arakel, Robert P. Mecham, Atilla Kovacs, Carmen M. Halabi, Blanche Schwappach, Maria S. Remedi, Colin G. Nichols
JCI Insight. 2021 Mar 8; 6(5): e145934. Published online 2021 Mar 8. doi: 10.1172/jci.insight.145934
PMCID:
PMC8021106
10.
Helen I Roessler, Gijs van Haaften, Mieke M van Haelst
BMJ Case Rep. 2021; 14(7): e243118. Published online 2021 Jul 12. doi: 10.1136/bcr-2021-243118
PMCID:
PMC8276143
11.
Conor McClenaghan, Yan Huang, Scot J Matkovich, Attila Kovacs, Carla J Weinheimer, Ron Perez, Thomas J Broekelmann, Theresa M Harter, Jin-Moo Lee, Maria S Remedi, Colin G Nichols
Function (Oxf) 2020; 1(1): zqaa004. Published online 2020 Jun 18. doi: 10.1093/function/zqaa004
PMCID:
PMC7446247
12.
Conor McClenaghan, Colin G. Nichols
Am J Physiol Cell Physiol. 2022 Sep 1; 323(3): C920–C935. Published online 2022 Jul 25. doi: 10.1152/ajpcell.00154.2022
PMCID:
PMC9467476
13.
Teresa Crespo-García, Marcos Rubio-Alarcón, Anabel Cámara-Checa, María Dago, Josu Rapún, Paloma Nieto-Marín, María Marín, Jorge Cebrián, Juan Tamargo, Eva Delpón, Ricardo Caballero
J Gen Physiol. 2023 Jan 2; 155(1): e202112995. Published online 2022 Oct 26. doi: 10.1085/jgp.202112995
PMCID:
PMC9614705
14.
Gautam K. Singh, Conor McClenaghan, Manish Aggarwal, Hongjie Gu, Maria S. Remedi, Dorothy K. Grange, Colin G. Nichols
J Am Heart Assoc. 2022 Dec 20; 11(24): e027363. Published online 2022 Dec 14. doi: 10.1161/JAHA.122.027363
PMCID:
PMC9798820
15.
Jian Gao, Conor McClenaghan, Imke Christiaans, Marielle Alders, Kirsten van Duinen, Mieke M. van Haelst, Gijs van Haaften, Colin G. Nichols
Eur J Hum Genet. 2023 Feb; 31(2): 188–194. Published online 2022 Nov 7. doi: 10.1038/s41431-022-01210-x
PMCID:
PMC9905590
16.
Alessandra Mattiucci, Giampiero Girolomoni, Matteo Cassina, Thomas Zoller, Franco Antoniazzi, Donatella Schena
Clin Case Rep. 2023 Mar; 11(3): e6928. Published online 2023 Mar 2. doi: 10.1002/ccr3.6928
PMCID:
PMC9979969
17.
Michael J Davis, Jorge A Castorena-Gonzalez, Hae Jin Kim, Min Li, Maria Remedi, Colin G Nichols
Function (Oxf) 2023; 4(3): zqad017. Published online 2023 Apr 18. doi: 10.1093/function/zqad017
PMCID:
PMC10194823
18.
Alex Hanson, Conor McClenaghan, Kuo-Chan Weng, Sarah Colijn, Amber N. Stratman, Carmen M. Halabi, Dorothy K. Grange, Jonathan R. Silva, Colin G. Nichols
Version 1. bioRxiv. Preprint. 2023 Jul 1. doi: 10.1101/2023.06.29.547088
PMCID:
PMC10327170
19.
Jian Gao, Conor McClenaghan, Kenneth A. Matreyek, Dorothy K. Grange, Colin G. Nichols
J Pharmacol Exp Ther. 2023 Sep; 386(3): 298–309. Published online 2023 Sep. doi: 10.1124/jpet.123.001659
PMCID:
PMC10449099
20.
Falastine Daas, Punita Gupta, Fuad Kiblawi
BMC Pediatr. 2023; 23: 644. Published online 2023 Dec 19. doi: 10.1186/s12887-023-04446-8
PMCID:
PMC10731865

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