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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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2
WUSCHEL-RELATED HOMEOBOX5 Gene Expression and Interaction of CLE Peptides with Components of the Systemic Control Add Two Pieces to the Puzzle of Autoregulation of Nodulation
WUSCHEL-RELATED HOMEOBOX5 Gene Expression and Interaction of CLE Peptides with Components of the Systemic Control Add Two Pieces to the Puzzle of Autoregulation of Nodulation
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WUSCHEL-RELATED HOMEOBOX5 Gene Expression and Interaction of CLE Peptides with Components of the Systemic Control Add Two Pieces to the Puzzle of Autoregulation of Nodulation

Osipova, Maria A. ; Mortier, Virginie ; Demchenko, Kirill N. ; Tsyganov, Victor E. ; Tikhonovich, Igor A. ; Lutova, Ludmila A. ; Dolgikh, Elena A. ; Goormachtig, Sofie

Plant physiology (Bethesda), 2012-03, Vol.158 (3), p.1329-1341 [Periódico revisado por pares]

Rockville, MD: American Society of Plant Biologists

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3
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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4
Group III-A XTH Genes of Arabidopsis Encode Predominant Xyloglucan Endohydrolases That Are Dispensable for Normal Growth
Group III-A XTH Genes of Arabidopsis Encode Predominant Xyloglucan Endohydrolases That Are Dispensable for Normal Growth
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Group III-A XTH Genes of Arabidopsis Encode Predominant Xyloglucan Endohydrolases That Are Dispensable for Normal Growth

Kaewthai, Nomchit ; Gendre, Delphine ; Eklöf, Jens M. ; Ibatullin, Farid M. ; Ezcurra, Ines ; Bhalerao, Rishikesh P. ; Brumer, Harry

Plant physiology (Bethesda), 2013-01, Vol.161 (1), p.440-454 [Periódico revisado por pares]

Rockville, MD: American Society of Plant Biologists

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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
Effect of AMPD1 Gene Polymorphism on Muscle Activity in Humans
Effect of AMPD1 Gene Polymorphism on Muscle Activity in Humans
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Effect of AMPD1 Gene Polymorphism on Muscle Activity in Humans

Fedotovskaya, O. N. ; Danilova, A. A. ; Akhmetov, I. I.

Bulletin of experimental biology and medicine, 2013-02, Vol.154 (4), p.489-491 [Periódico revisado por pares]

Boston: Springer US

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7
Nuclear and cytoplasmic genetic diversity reveals long-term population decline in Abies semenovii, an endemic fir of central Asia
Nuclear and cytoplasmic genetic diversity reveals long-term population decline in Abies semenovii, an endemic fir of central Asia
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Nuclear and cytoplasmic genetic diversity reveals long-term population decline in Abies semenovii, an endemic fir of central Asia

Semerikova, Svetlana A ; Martin Lascoux ; Vladimir L. Semerikov

Canadian journal of forest research, 2012-12, Vol.42 (12), p.2142-2152 [Periódico revisado por pares]

Ottawa, ON: NRC Research Press

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8
Characterization of two major urinary metabolites of the PPARδ-agonist GW1516 and implementation of the drug in routine doping controls
Characterization of two major urinary metabolites of the PPARδ-agonist GW1516 and implementation of the drug in routine doping controls
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Characterization of two major urinary metabolites of the PPARδ-agonist GW1516 and implementation of the drug in routine doping controls

Thevis, Mario ; Möller, Ines ; Thomas, Andreas ; Beuck, Simon ; Rodchenkov, Grigory ; Bornatsch, Wolfgang ; Geyer, Hans ; Schänzer, Wilhelm

Analytical & bioanalytical chemistry (Print), 2010-04, Vol.396 (7), p.2479-2491 [Periódico revisado por pares]

Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag

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9
Genetic differentiation of cercariae infrapopulations of the avian schistosome Trichobilharzia szidati based on RAPD markers and mitochondrial cox1 gene
Genetic differentiation of cercariae infrapopulations of the avian schistosome Trichobilharzia szidati based on RAPD markers and mitochondrial cox1 gene
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Genetic differentiation of cercariae infrapopulations of the avian schistosome Trichobilharzia szidati based on RAPD markers and mitochondrial cox1 gene

Korsunenko, Anna ; Chrisanfova, Galina ; Lopatkin, Anton ; Beer, Sergey A. ; Voronin, Mikhail ; Ryskov, Alexey P. ; Semyenova, Seraphima K.

Parasitology research (1987), 2012-02, Vol.110 (2), p.833-841 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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10
Hypermethylation of Ron proximal promoter associates with lack of full-length Ron and transcription of oncogenic short-Ron from an internal promoter
Hypermethylation of Ron proximal promoter associates with lack of full-length Ron and transcription of oncogenic short-Ron from an internal promoter
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Hypermethylation of Ron proximal promoter associates with lack of full-length Ron and transcription of oncogenic short-Ron from an internal promoter

ANGELONI, D ; DANILKOVITCH -MIAGKOVA, A ; IVANOVA, T ; BRAGA, E ; ZABAROVSKY, E ; LERMAN, M. I

Oncogene, 2007-07, Vol.26 (31), p.4499-4512 [Periódico revisado por pares]

Basingstoke: Nature Publishing

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