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Year Number of Results
1990 1
1992 4
1993 1
1997 3
1998 3
1999 1
2000 1
2001 1
2002 1
2003 3
2004 2
2006 1
2007 2
2008 1
2009 3
2010 1
2012 1
2013 2
2014 3
2015 3
2016 3
2017 2
2018 2
2019 1
2020 4
2021 2
2022 4
2023 2
2024 0

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55 results

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Page 1
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Groeneweg S, van Geest FS, Abacı A, Alcantud A, Ambegaonkar GP, Armour CM, Bakhtiani P, Barca D, Bertini ES, van Beynum IM, Brunetti-Pierri N, Bugiani M, Cappa M, Cappuccio G, Castellotti B, Castiglioni C, Chatterjee K, de Coo IFM, Coutant R, Craiu D, Crock P, DeGoede C, Demir K, Dica A, Dimitri P, Dolcetta-Capuzzo A, Dremmen MHG, Dubey R, Enderli A, Fairchild J, Gallichan J, George B, Gevers EF, Hackenberg A, Halász Z, Heinrich B, Huynh T, Kłosowska A, van der Knaap MS, van der Knoop MM, Konrad D, Koolen DA, Krude H, Lawson-Yuen A, Lebl J, Linder-Lucht M, Lorea CF, Lourenço CM, Lunsing RJ, Lyons G, Malikova J, Mancilla EE, McGowan A, Mericq V, Lora FM, Moran C, Müller KE, Oliver-Petit I, Paone L, Paul PG, Polak M, Porta F, Poswar FO, Reinauer C, Rozenkova K, Menevse TS, Simm P, Simon A, Singh Y, Spada M, van der Spek J, Stals MAM, Stoupa A, Subramanian GM, Tonduti D, Turan S, den Uil CA, Vanderniet J, van der Walt A, Wémeau JL, Wierzba J, de Wit MY, Wolf NI, Wurm M, Zibordi F, Zung A, Zwaveling-Soonawala N, Visser WE. Groeneweg S, et al. Among authors: mancilla ee. Lancet Diabetes Endocrinol. 2020 Jul;8(7):594-605. doi: 10.1016/S2213-8587(20)30153-4. Lancet Diabetes Endocrinol. 2020. PMID: 32559475 Free PMC article.
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP).
Pignolo RJ, Hsiao EC, Al Mukaddam M, Baujat G, Berglund SK, Brown MA, Cheung AM, De Cunto C, Delai P, Haga N, Kannu P, Keen R, Le Quan Sang KH, Mancilla EE, Marino R, Strahs A, Kaplan FS. Pignolo RJ, et al. Among authors: mancilla ee. J Bone Miner Res. 2023 Mar;38(3):381-394. doi: 10.1002/jbmr.4762. Epub 2023 Jan 25. J Bone Miner Res. 2023. PMID: 36583535 Free article.
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A; Global Leukodystrophy Initiative (GLIA) Consortium. Adang LA, et al. Among authors: mancilla e. Mol Genet Metab. 2017 Sep;122(1-2):18-32. doi: 10.1016/j.ymgme.2017.08.006. Epub 2017 Aug 20. Mol Genet Metab. 2017. PMID: 28863857 Free PMC article.
Growth in Children with a Fontan Circulation.
Mancilla EE, Zielonka B, Roizen JD, Dodds KM, Rand EB, Heimall JR, Chen F, Wu C, Goldberg DJ, Rychik J. Mancilla EE, et al. J Pediatr. 2021 Aug;235:149-155.e2. doi: 10.1016/j.jpeds.2021.04.019. Epub 2021 Apr 19. J Pediatr. 2021. PMID: 33887332
A Path FORWARD: Development of a Comprehensive Multidisciplinary Clinic to Create Health and Wellness for the Child and Adolescent with a Fontan Circulation.
Rychik J, Goldberg DJ, Rand E, Mancilla EE, Heimall J, Seivert N, Campbell D, O'Malley S, Dodds KM. Rychik J, et al. Among authors: mancilla ee. Pediatr Cardiol. 2022 Aug;43(6):1175-1192. doi: 10.1007/s00246-022-02930-z. Epub 2022 May 23. Pediatr Cardiol. 2022. PMID: 35604474 Free PMC article. Review.
Activating mutations of the Ca2+-sensing receptor.
Mancilla EE, De Luca F, Baron J. Mancilla EE, et al. Mol Genet Metab. 1998 Jul;64(3):198-204. doi: 10.1006/mgme.1998.2716. Mol Genet Metab. 1998. PMID: 9719629 Review.
Resolving drug selection and migration in an inbred South American Plasmodium falciparum population with identity-by-descent analysis.
Carrasquilla M, Early AM, Taylor AR, Knudson Ospina A, Echeverry DF, Anderson TJC, Mancilla E, Aponte S, Cárdenas P, Buckee CO, Rayner JC, Sáenz FE, Neafsey DE, Corredor V. Carrasquilla M, et al. Among authors: mancilla e. PLoS Pathog. 2022 Dec 21;18(12):e1010993. doi: 10.1371/journal.ppat.1010993. eCollection 2022 Dec. PLoS Pathog. 2022. PMID: 36542676 Free PMC article.
Spatio-temporal dynamics of Plasmodium falciparum transmission within a spatial unit on the Colombian Pacific Coast.
Knudson A, González-Casabianca F, Feged-Rivadeneira A, Pedreros MF, Aponte S, Olaya A, Castillo CF, Mancilla E, Piamba-Dorado A, Sanchez-Pedraza R, Salazar-Terreros MJ, Lucchi N, Udhayakumar V, Jacob C, Pance A, Carrasquilla M, Apráez G, Angel JA, Rayner JC, Corredor V. Knudson A, et al. Among authors: mancilla e. Sci Rep. 2020 Feb 28;10(1):3756. doi: 10.1038/s41598-020-60676-1. Sci Rep. 2020. PMID: 32111872 Free PMC article. Clinical Trial.
55 results