Výsledky vyhledávání - Chris Ottolenghi

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  1. 1
    Constitutively active Foxo3 in oocytes preserves ovarian reserve in mice

    Constitutively active Foxo3 in oocytes preserves ovarian reserve in mice Autor Emanuele Pelosi, Shakib Omari, Marc Michel, Jun Ding, Tomokazu Amano, Antonino Forabosco, David Schlessinger, Chris Ottolenghi

    Vydáno 2013
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  2. 2
    Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency

    Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency Autor Étienne Sokal, Xavier Stéphenne, Chris Ottolenghi, Nawal Jazouli, Philippe Clapuyt, Florence Lacaille, Mustapha Najimi, Pascale de Lonlay, Françoise Smets

    Vydáno 2013
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  3. 3
    Absence of Mutations Involving the Lim Homeobox Domain Gene<i>LHX9</i>in 46,XY Gonadal Agenesis and Dysgenesis

    Absence of Mutations Involving the Lim Homeobox Domain Gene<i>LHX9</i>in 46,XY Gonadal Agenesis and Dysgenesis Autor Chris Ottolenghi, Carlos Alberto Moreira‐Filho, Berenice B. Mendonça, Marcello Barbieri, Marc Fellous, Gary D. Berkovitz, Ken McElreavey

    Vydáno 2001
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  4. 4
    Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells

    Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells Autor Chris Ottolenghi, Emanuele Pelosi, Joseph A. Tran, Maria Colombino, Eric G. Douglass, Timur Nedorezov, Antonio Cao, Antonino Forabosco, David Schlessinger

    Vydáno 2007
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  5. 5
    Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy

    Cystathionine as a marker for 1p/19q codeleted gliomas by in vivo magnetic resonance spectroscopy Autor Francesca Branzoli, Clément Pontoizeau, Lucien Tchara, Anna Luisa Di Stefano, Aurélie Kamoun, Dinesh K. Deelchand, Romain Valabrègue, Stéphane Lehericy, Marc Sanson, Chris Ottolenghi, Małgorzata Marjaǹska

    Vydáno 2019
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  6. 6
    Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

    Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults Autor Albane Brodin-Sartorius, Marie-Josèphe Tête, Patrick Niaudet, Corinne Antignac, Geneviève Guest, Chris Ottolenghi, Marina Charbit, Dominique Moyse, Christophe Legendre, Philippe Lesavre, Pierre Cochat, Aude Servais

    Vydáno 2011
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  7. 7
    Foxl2functions in sex determination and histogenesis throughout mouse ovary development

    Foxl2functions in sex determination and histogenesis throughout mouse ovary development Autor José Elías García‐Ortíz, Emanuele Pelosi, Shakib Omari, Timur Nedorezov, Yulan Piao, Jesse Karmazin, Manuela Uda, Antonio Cao, Steve W. Cole, Antonino Forabosco, David Schlessinger, Chris Ottolenghi

    Vydáno 2009
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  8. 8
    Highly specific determination of IDH status using edited in vivo magnetic resonance spectroscopy

    Highly specific determination of IDH status using edited in vivo magnetic resonance spectroscopy Autor Francesca Branzoli, Anna Luisa Di Stefano, Laurent Capelle, Chris Ottolenghi, Romain Valabrègue, Dinesh K. Deelchand, Franck Bielle, Chiara Villa, Bertrand Baussart, Stéphane Lehericy, Marc Sanson, Małgorzata Marjaǹska

    Vydáno 2017
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  9. 9
    Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study

    Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study Autor Fabienne Charbit‐Henrion, Florence Lacaille, Patrick McKiernan, M Girard, Pascale de Lonlay, Vassili Valayannopoulos, Chris Ottolenghi, Anupam Chakrapani, M A Preece, Khalid Sharif, Christophe Chardot, Philippe Hubert, Laurent Dupic

    Vydáno 2015
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  10. 10
    Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet

    Successful Treatment of Severe Cardiomyopathy in Glycogen Storage Disease Type III With D,L-3-Hydroxybutyrate, Ketogenic and High-Protein Diet Autor Vassili Valayannopoulos, Fanny Bajolle, Jean‐Baptiste Arnoux, Sandrine Dubois, N. Sannier, Christiane Baussan, François Petit, Philippe Labrune, Daniel Rabier, Chris Ottolenghi, Anne Vassault, Christine Broissand, Damien Bonnet, Pascale de Lonlay

    Vydáno 2011
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  11. 11
    A Metabolic Study of Huntington’s Disease

    A Metabolic Study of Huntington’s Disease Autor Rajasree Nambron, Edina Silajdžić, Eirini Kalliolia, Chris Ottolenghi, Peter C. Hindmarsh, Nathan R. Hill, Seán J. Costelloe, Nicholas G. Martin, Vincenzo Positano, Hilary Watt, Chris Frost, Maria Björkqvist, Thomas T. Warner

    Vydáno 2016
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  12. 12
    DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death

    DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death Autor A. Bertrand, Laure Renou, Aurélie Papadopoulos, Maud Beuvin, Emmanuelle Lacène, Catherine Massart, Chris Ottolenghi, V. Decostre, Sophia Maron, Saskia Schlossarek, Marie‐Elodie Cattin, Lucie Carrier, Marie Malissen, Takuro Arimura, Gisèle Bonne

    Vydáno 2011
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  13. 13
    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

    Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias Autor Mathilde Nizon, Chris Ottolenghi, Vassili Valayannopoulos, Jean‐Baptiste Arnoux, Valérie Barbier, Florence Habarou, Isabelle Desguerre, Nathalie Boddaert, Jean‐Paul Bonnefont, Cécile Acquaviva, Jean‐François Benoist, Daniel Rabier, Guy Touati, Pascale de Lonlay

    Vydáno 2013
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  14. 14
    Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency

    Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency Autor Fanny Mochel, Élodie Hainque, Domitille Gras, Isaac Adanyeguh, Samantha Caillet, Bénédicte Héron, Agathe Roubertie, Elsa Kaphan, Romain Valabrègue, Daisy Rinaldi, Sandrine Vuillaumier, Raphael Schiffmann, Chris Ottolenghi, Jean‐Yves Hogrel, Laurent Servais, Emmanuel Roze

    Vydáno 2015
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  15. 15
    Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

    Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients Autor Anaïs Brassier, Stéphanie Gobin, Jean Baptiste Arnoux, Vassili Valayannopoulos, Florence Habarou, Manoëlle Kossorotoff, Aude Servais, Valérie Barbier, Sandrine Dubois, Guy Touati, Robert Barouki, Fabrice Lesage, Laurent Dupic, Jean‐Paul Bonnefont, Chris Ottolenghi, Pascale de Lonlay

    Vydáno 2015
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  16. 16
    Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients

    Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients Autor Élise Lebigot, Pauline Gaignard, Imen Dorboz, Abdelhamid Slama, M. Rio, Pascale de Lonlay, Bénédicte Héron, Frédérique Sabourdy, Odile Boespflug‐Tanguy, Ariel R. Cardoso, Florence Habarou, Chris Ottolenghi, Patrice Thérond, Cécile Bouton, Marie‐Pierre Golinelli‐Cohen, Audrey Boutron

    Vydáno 2017
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  17. 17
    Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

    Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation Autor Anthony Drecourt, Joël Babdor, Michaël Dussiot, Floriane Petit, Nicolas Goudin, Meriem Garfa-Traoré, Florence Habarou, Christine Bôle‐Feysot, Patrick Nitschké, Chris Ottolenghi, Metodi D. Metodiev, Valérie Serre, I. Desguerre, Nathalie Boddaert, Olivier Hermine, Arnold Münnich, Agnès Rötig

    Vydáno 2018
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  18. 18
    Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

    Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase Autor Yohan Sorèze, Audrey Boutron, Florence Habarou, Christine Barnérias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bôle‐Feysot, Patrick Nitschké, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay

    Vydáno 2013
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  19. 19
    Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism

    Loss of succinate dehydrogenase activity results in dependency on pyruvate carboxylation for cellular anabolism Autor Charlotte Lussey‐Lepoutre, Kate E.R. Hollinshead, Christian Ludwig, Mélanie Menara, Aurélie Morin, Luis-Jaime Castro-Vega, Seth J. Parker, Maxime Janin, Cosimo Martinelli, Chris Ottolenghi, Christian M. Metallo, Anne‐Paule Gimenez‐Roqueplo, Judith Favier, Daniel A. Tennant

    Vydáno 2015
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  20. 20
    SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

    SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma Autor Éric Letouzé, Cosimo Martinelli, Céline Loriot, Nelly Burnichon, Nasséra Abermil, Chris Ottolenghi, Maxime Janin, Mélanie Menara, An Thach Nguyen, Paule Bénit, Alexandre Buffet, Charles Marcaillou, Jérôme Bertherat, Laurence Amar, Pierre Rustin, Aurélien de Reyniès, Anne‐Paule Gimenez‐Roqueplo, Judith Favier

    Vydáno 2013
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