Hasil Pencarian - Andrea Superti-Furga

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  1. 1
    Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

    Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics oleh Karim Gariani, Marina Nascimento, Andrea Superti-Furga, Christel Tran

    Diterbitkan 2020-08-01
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  2. 2
    Skeletal Dysplasias Caused by Sulfation Defects

    Skeletal Dysplasias Caused by Sulfation Defects oleh Chiara Paganini, Chiara Gramegna Tota, Andrea Superti-Furga, Antonio Rossi

    Diterbitkan 2020-04-01
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  3. 3
    Overweight and obesity in adult patients with phenylketonuria: a systematic review

    Overweight and obesity in adult patients with phenylketonuria: a systematic review oleh Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani, Christel Tran

    Diterbitkan 2023-02-01
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  4. 4
    Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia

    Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia oleh Tatiana Pineda, Antonio Rossi, Luisa Bonafe, Andrea Superti Furga, Harvy M. Velasco

    Diterbitkan 2013-07-01
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  5. 5
    Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

    Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification oleh Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, Fleur S. van Dijk, David O. Sillence

    Diterbitkan 2024-07-01
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  6. 6
    Spinal cerebrotendinous xanthomatosis: A case report and literature review

    Spinal cerebrotendinous xanthomatosis: A case report and literature review oleh Isis Atallah, Diego San Millán, Wicki Benoît, Belinda Campos-Xavier, Andrea Superti-Furga, Christel Tran

    Diterbitkan 2021-03-01
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  7. 7
    Elevated lactate in Mauriac syndrome: still a mystery

    Elevated lactate in Mauriac syndrome: still a mystery oleh Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran

    Diterbitkan 2021-08-01
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  8. 8
    Correction to: Elevated lactate in Mauriac syndrome: still a mystery

    Correction to: Elevated lactate in Mauriac syndrome: still a mystery oleh Brice Touilloux, Henri Lu, Belinda Campos-Xavier, Andrea Superti-Furga, Michael Hauschild, Thérèse Bouthors, Christel Tran

    Diterbitkan 2021-09-01
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  9. 9
    Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

    Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation oleh Bettina Härter, Francesco Benedicenti, Daniela Karall, Ekkehard Lausch, Gisela Schweigmann, Franco Stanzial, Andrea Superti‐Furga, Sabine Scholl‐Bürgi

    Diterbitkan 2020-06-01
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  10. 10
    Classical homocystinuria, is it safe to exercise?

    Classical homocystinuria, is it safe to exercise? oleh Aurel T. Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, Olivier Braissant, Rosette Pedro, Andrea Superti-Furga, Francesca Amati, Christel Tran

    Diterbitkan 2021-06-01
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  11. 11
    Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

    Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature oleh Filipa Bastos, Mathieu Quinodoz, Marie-Claude Addor, Beryl Royer-Bertrand, Heidi Fodstad, Carlo Rivolta, Claudia Poloni, Andrea Superti-Furga, Eliane Roulet-Perez, Sebastien Lebon

    Diterbitkan 2020-01-01
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  12. 12
    Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

    Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. oleh Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond

    Diterbitkan 2005-10-01
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  13. 13
    Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy

    Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy oleh Gabriella Guzzo, Gabriella Guzzo, Gabriella Guzzo, Salima Sadallah, Heidi Fodstad, Jean-Pierre Venetz, Samuel Rotman, Daniel Teta, Thierry Gauthier, Giuseppe Pantaleo, Andrea Superti-Furga, Manuel Pascual

    Diterbitkan 2021-05-01
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  14. 14
    CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

    CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome oleh Jérôme Bürgi, Béatrice Kunz, Laurence Abrami, Julie Deuquet, Alessandra Piersigilli, Sabine Scholl-Bürgi, Ekkehart Lausch, Sheila Unger, Andrea Superti-Furga, Paolo Bonaldo, F. Gisou van der Goot

    Diterbitkan 2017-06-01
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  15. 15
    The skeletal effect of post-natal treatment with N-acetylcysteine in a diastrophic dysplasia mouse model

    The skeletal effect of post-natal treatment with N-acetylcysteine in a diastrophic dysplasia mouse model oleh Chiara Gramegna Tota, Chiara Paganini, Luca Monti, Giulia Quattrini, Antonella Forlino, Morgane Bourmaud, Martine Cohen-Solal, Antonio Maurizi, Mattia Capulli, Anna Teti, Andrea Superti-Furga, Antonio Rossi

    Diterbitkan 2021-04-01
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  16. 16
    Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension

    Tortuosity in non-atherosclerotic vascular diseases is associated with age, arterial aneurysms, and hypertension oleh Xhyljeta Luta, Fabio Zanchi, Marco Fresa, Enrica Porccedu, Sanjiv Keller, Judith Bouchardy, Sébastien Déglise, Salah Dine Qanadli, Matthias Kirsch, Grégoire Wuerzner, Andrea Superti-Furga, Giacomo Buso, Lucia Mazzolai

    Diterbitkan 2024-06-01
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  17. 17
    Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

    Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant oleh Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran

    Diterbitkan 2019-06-01
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  18. 18
    The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

    The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects oleh Christel Tran, Licia Turolla, Diana Ballhausen, Sandrine Cornaz Buros, Tony Teav, Hector Gallart-Ayala, Julijana Ivanisevic, Mohamed Faouzi, Dirk J. Lefeber, Ivan Ivanovski, Sara Giangiobbe, Stefano Giuseppe Caraffi, Livia Garavelli, Andrea Superti-Furga

    Diterbitkan 2021-09-01
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  19. 19
    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies

    Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies oleh Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G. Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta

    Diterbitkan 2021-09-01
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  20. 20
    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

    AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data oleh Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta

    Diterbitkan 2021-01-01
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