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2005 1
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2011 1
2013 1
2014 1
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2019 8
2020 5
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2023 1
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27 results

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Page 1
Showing results for macaya sp
Search for Macayo SP instead (1 results)
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
Living at the Frontiers of Life: Extremophiles in Chile and Their Potential for Bioremediation.
Orellana R, Macaya C, Bravo G, Dorochesi F, Cumsille A, Valencia R, Rojas C, Seeger M. Orellana R, et al. Front Microbiol. 2018 Oct 30;9:2309. doi: 10.3389/fmicb.2018.02309. eCollection 2018. Front Microbiol. 2018. PMID: 30425685 Free PMC article. Review.
., Acidithiobacillus ferrooxidans, Leptospirillum ferriphilum from Atacama Desert and Central Chile copper ores), halophiles (e.g., Shewanella sp. Asc-3 from Altiplano, Streptomyces sp. HKF-8 from Patagonia), alkaliphiles (Exiguobacterium sp. ...
., Acidithiobacillus ferrooxidans, Leptospirillum ferriphilum from Atacama Desert and Central Chile copper ores), halophiles (e.g., Shewanel …
Global sea-surface iodide observations, 1967-2018.
Chance RJ, Tinel L, Sherwen T, Baker AR, Bell T, Brindle J, Campos MLAM, Croot P, Ducklow H, Peng H, Hopkins F, Hoogakker B, Hughes C, Jickells TD, Loades D, Macaya DAR, Mahajan AS, Malin G, Phillips D, Roberts I, Roy R, Sarkar A, Sinha AK, Song X, Winkelbauer H, Wuttig K, Yang M, Peng Z, Carpenter LJ. Chance RJ, et al. Sci Data. 2019 Nov 26;6(1):286. doi: 10.1038/s41597-019-0288-y. Sci Data. 2019. PMID: 31772255 Free PMC article.
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.
Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC. Jansen AC, et al. Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019. Front Neurol. 2019. PMID: 31333563 Free PMC article.
Draft genome sequences of halotolerant Halomonas spp. SpR1 and SpR8, potential plant growth-promoting bacteria associated with Salicornia rhizosphere in a hydrothermal lagoon ecosystem of the Altiplano, Northern Chile.
Álvarez-Hubert I, Durán RE, Vega-Celedón P, Vásconez I-N, Macaya CC, Seeger M. Álvarez-Hubert I, et al. Microbiol Resour Announc. 2024 Jan 17;13(1):e0082223. doi: 10.1128/MRA.00822-23. Epub 2023 Dec 4. Microbiol Resour Announc. 2024. PMID: 38047652 Free PMC article.
SpR1 and SpR8 are potential plant growth-promoting bacteria (PGPB) isolated from Salicornia rhizosphere in a Chilean Altiplano hydrothermal lagoon. We report draft genomes of Halomonas sp. SpR1 (5.17Mb) and Halomonas sp. SpR8 (4.47 Mb). Both represent potentially no …
SpR1 and SpR8 are potential plant growth-promoting bacteria (PGPB) isolated from Salicornia rhizosphere in a Chilean Altiplano hydrothermal …
The Biogeographic Importance of Buoyancy in Macroalgae: A Case Study of the Southern Bull-Kelp Genus Durvillaea (Phaeophyceae), Including Descriptions of Two New Species1.
Fraser CI, Velásquez M, Nelson WA, Macaya EC, Hay CH. Fraser CI, et al. J Phycol. 2020 Feb;56(1):23-36. doi: 10.1111/jpy.12939. Epub 2019 Nov 21. J Phycol. 2020. PMID: 31642057
In revising the genus, we not only provide updated identification tools and describe two new species (D. incurvata comb. nov. from Chile and D. fenestrata sp. nov. from the Antipodes Islands), but also carry out biogeographic analyses to determine the evolutionary history …
In revising the genus, we not only provide updated identification tools and describe two new species (D. incurvata comb. nov. from Chile and …
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Nabbout R, et al. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.
Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d'Augères G, Carter T, Belousova E, Benedik MP, Cottin V, Curatolo P, Dahlin M, D'Amato L, Ferreira JC, Feucht M, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC. Jansen AC, et al. Front Neurol. 2020 Aug 28;11:904. doi: 10.3389/fneur.2020.00904. eCollection 2020. Front Neurol. 2020. PMID: 32982929 Free PMC article.
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. de Vries PJ, et al. Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8. Orphanet J Rare Dis. 2018. PMID: 30201051 Free PMC article.
27 results