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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
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Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Scheper, Gert C ; Bugiani, Marianna ; Florentz, Catherine ; Van Coster, Rudy ; Smet, Joél ; Schiffmann, Raphael ; van Berkel, Carola G M ; Muravina, Tatjana I ; van der Klok, Thom ; Smeitink, Jan A M ; Pronk, Jan C ; van Andel, Rob J ; Uziel, Graziella ; Krägeloh-Mann, Ingeborg ; Sissler, Marie ; Serkov, Sergey V ; van der Knaap, Marjo S

Nature genetics, 2007-04, Vol.39 (4), p.534-539 [Periódico revisado por pares]

London: Nature Publishing Group

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2
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
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Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Hildebrandt, Friedhelm ; Hinkes, Bernward ; Wiggins, Roger C ; Gbadegesin, Rasheed ; Vlangos, Christopher N ; Seelow, Dominik ; Nürnberg, Gudrun ; Garg, Puneet ; Verma, Rakesh ; Chaib, Hassan ; Hoskins, Bethan E ; Ashraf, Shazia ; Becker, Christian ; Hennies, Hans Christian ; Goyal, Meera ; Wharram, Bryan L ; Schachter, Asher D ; Mudumana, Sudha ; Drummond, Iain ; Kerjaschki, Dontscho ; Waldherr, Rüdiger ; Dietrich, Alexander ; Ozaltin, Fatih ; Bakkaloglu, Aysin ; Cleper, Roxana ; Basel-Vanagaite, Lina ; Pohl, Martin ; Griebel, Martin ; Tsygin, Alexey N ; Soylu, Alper ; Müller, Dominik ; Sorli, Caroline S ; Bunney, Tom D ; Katan, Matilda ; Liu, Jinhong ; Attanasio, Massimo ; O'Toole, John F ; Hasselbacher, Katrin ; Mucha, Bettina ; Otto, Edgar A ; Airik, Rannar ; Kispert, Andreas ; Kelley, Grant G ; Smrcka, Alan V ; Gudermann, Thomas ; Holzman, Lawrence B ; Nürnberg, Peter

Nature genetics, 2006-12, Vol.38 (12), p.1397-1405 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Unintentional movements produced by back-coupling between the actual and referent body configurations: violations of equifinality in multi-joint positional tasks
Unintentional movements produced by back-coupling between the actual and referent body configurations: violations of equifinality in multi-joint positional tasks
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Unintentional movements produced by back-coupling between the actual and referent body configurations: violations of equifinality in multi-joint positional tasks

Zhou, Tao ; Solnik, Stanislaw ; Wu, Yen-Hsun ; Latash, Mark L.

Experimental brain research, 2014-12, Vol.232 (12), p.3847-3859 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Fire emissions estimates in Siberia: evaluation of uncertainties in area burned, land cover, and fuel consumption
Fire emissions estimates in Siberia: evaluation of uncertainties in area burned, land cover, and fuel consumption
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Fire emissions estimates in Siberia: evaluation of uncertainties in area burned, land cover, and fuel consumption

KUKAVSKAYA, Elena A ; SOJA, Amber J ; PETKOV, Alexander P ; PONOMAREV, Evgeni I ; IVANOVA, Galina A ; CONARD, Susan G

Canadian journal of forest research, 2013-05, Vol.43 (5), p.493-506 [Periódico revisado por pares]

Ottawa, ON: NRC Research Press

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5
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy
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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Evgrafov, Oleg V ; Mersiyanova, Irena ; Irobi, Joy ; Van Den Bosch, Ludo ; Dierick, Ines ; Leung, Conrad L ; Schagina, Olga ; Verpoorten, Nathalie ; Van Impe, Katrien ; Fedotov, Valeriy ; Dadali, Elena ; Auer-Grumbach, Michaela ; Windpassinger, Christian ; Wagner, Klaus ; Mitrovic, Zoran ; Hilton-Jones, David ; Talbot, Kevin ; Martin, Jean-Jacques ; Vasserman, Natalia ; Tverskaya, Svetlana ; Polyakov, Alexander ; Liem, Ronald K H ; Gettemans, Jan ; Robberecht, Wim ; De Jonghe, Peter ; Timmerman, Vincent

Nature genetics, 2004-06, Vol.36 (6), p.602-606 [Periódico revisado por pares]

London: Nature Publishing Group

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6
Treatment of older patients with HER2-positive metastatic breast cancer with pertuzumab, trastuzumab, and docetaxel: subgroup analyses from a randomized, double-blind, placebo-controlled phase III trial (CLEOPATRA)
Treatment of older patients with HER2-positive metastatic breast cancer with pertuzumab, trastuzumab, and docetaxel: subgroup analyses from a randomized, double-blind, placebo-controlled phase III trial (CLEOPATRA)
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Treatment of older patients with HER2-positive metastatic breast cancer with pertuzumab, trastuzumab, and docetaxel: subgroup analyses from a randomized, double-blind, placebo-controlled phase III trial (CLEOPATRA)

Miles, David ; Baselga, José ; Amadori, Dino ; Sunpaweravong, Patrapim ; Semiglazov, Vladimir ; Knott, Adam ; Clark, Emma ; Ross, Graham ; Swain, Sandra M.

Breast cancer research and treatment, 2013-11, Vol.142 (1), p.89-99 [Periódico revisado por pares]

Boston: Springer US

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7
Cloning, purification, and characterization of a cold-adapted esterase produced by Psychrobacter cryohalolentis K5T from Siberian cryopeg
Cloning, purification, and characterization of a cold-adapted esterase produced by Psychrobacter cryohalolentis K5T from Siberian cryopeg
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Cloning, purification, and characterization of a cold-adapted esterase produced by Psychrobacter cryohalolentis K5T from Siberian cryopeg

Novototskaya-Vlasova, Ksenia ; Petrovskaya, Lada ; Yakimov, Sergey ; Gilichinsky, David

FEMS microbiology ecology, 2012-11, Vol.82 (2), p.367-375 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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8
Aspect-vegetation complex effects on biochemical characteristics and decomposability of soil organic carbon on the eastern Qinghai-Tibetan Plateau
Aspect-vegetation complex effects on biochemical characteristics and decomposability of soil organic carbon on the eastern Qinghai-Tibetan Plateau
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Aspect-vegetation complex effects on biochemical characteristics and decomposability of soil organic carbon on the eastern Qinghai-Tibetan Plateau

Zhao, Ning-Ning ; Guggenberger, Georg ; Shibistova, Olga ; Thao, Dao Thi ; Shi, Wen Jing ; Li, Xiao Gang

Plant and soil, 2014-11, Vol.384 (1-2), p.289-301 [Periódico revisado por pares]

Cham: Springer-Verlag

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9
Analysis of community composition of sulfur-oxidizing bacteria in hypersaline and soda lakes using soxB as a functional molecular marker
Analysis of community composition of sulfur-oxidizing bacteria in hypersaline and soda lakes using soxB as a functional molecular marker
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Analysis of community composition of sulfur-oxidizing bacteria in hypersaline and soda lakes using soxB as a functional molecular marker

Tourova, Tatjana P ; Slobodova, Natalija V ; Bumazhkin, Boris K ; Kolganova, Tatjana V ; Muyzer, Gerard ; Sorokin, Dimitry Y

FEMS microbiology ecology, 2013-05, Vol.84 (2), p.280-289 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Healthy diet indicator and mortality in Eastern European populations: prospective evidence from the HAPIEE cohort
Healthy diet indicator and mortality in Eastern European populations: prospective evidence from the HAPIEE cohort
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Healthy diet indicator and mortality in Eastern European populations: prospective evidence from the HAPIEE cohort

STEFLER, D ; PIKHART, H ; JANKOVIC, N ; KUBINOVA, R ; PAJAK, A ; MALYUTINA, S ; SIMONOVA, G ; FESKENS, E. J. M ; PEASEY, A ; BOBAK, M

European journal of clinical nutrition, 2014-12, Vol.68 (12), p.1346-1352 [Periódico revisado por pares]

Basingstoke: Nature Publishing Group

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