檢索結果 - Superti‐Furga, Andrea

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  1. 1
    Current themes in molecular pediatrics: molecular medicine and its applications

    Current themes in molecular pediatrics: molecular medicine and its applications 由 Superti-Furga, Andrea, Garavelli, Livia

    出版 2010
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  2. 2
    Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis

    Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis 由 Schützle, Heike, Forster, Johannes, Superti-Furga, Andrea, Berner, Reinhard

    出版 2008
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  3. 3
    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 由 Gariani, Karim, Nascimento, Marina, Superti-Furga, Andrea, Tran, Christel

    出版 2020
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  4. 4
    Skeletal Dysplasias Caused by Sulfation Defects

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

    出版 2020
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  5. 5
    The dark sides of capillary morphogenesis gene 2

    The dark sides of capillary morphogenesis gene 2 由 Deuquet, Julie, Lausch, Ekkehart, Superti-Furga, Andrea, van der Goot, F Gisou

    出版 2012
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  6. 6
    In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation

    In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation 由 Pecora, Fabio, Gualeni, Benedetta, Forlino, Antonella, Superti-Furga, Andrea, Tenni, Ruggero, Cetta, Giuseppe, Rossi, Antonio

    出版 2006
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  7. 7
    Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

    Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocatio... 由 Hinrichs, Timo, Superti-Furga, Andrea, Scheiderer, Wolf-Dieter, Bonafé, Luisa, Brenner, Rolf E, Mattes, Thomas

    出版 2010
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  8. 8
    Spinal cerebrotendinous xanthomatosis: A case report and literature review

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

    出版 2021
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  9. 9
    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders

    DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders 由 Quinodoz, Mathieu, Royer-Bertrand, Beryl, Cisarova, Katarina, Di Gioia, Silvio Alessandro, Superti-Furga, Andrea, Rivolta, Carlo

    出版 2017
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  10. 10
    Elevated lactate in Mauriac syndrome: still a mystery

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

    出版 2021
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  11. 11
    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations 由 Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

    出版 2021
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  12. 12
    Correction to: Elevated lactate in Mauriac syndrome: still a mystery

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

    出版 2021
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  13. 13
    3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

    3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient 由 Meazza, Cristina, Lausch, Ekkehard, Pagani, Sara, Bozzola, Elena, Calcaterra, Valeria, Superti-Furga, Andrea, Silengo, Margherita, Bozzola, Mauro

    出版 2013
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  14. 14
    NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

    NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges 由 Good, Jean-Marc, Atallah, Isis, Castro Jimenez, Mayte, Benninger, David, Kuntzer, Thierry, Superti-Furga, Andrea, Tran, Christel

    出版 2021
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  15. 15
    Polymorphisms and Haplotypes of Acid Mammalian Chitinase Are Associated with Bronchial Asthma

    Polymorphisms and Haplotypes of Acid Mammalian Chitinase Are Associated with Bronchial Asthma 由 Bierbaum, Sibylle, Nickel, Renate, Koch, Anja, Lau, Susanne, Deichmann, Klaus A., Wahn, Ulrich, Superti-Furga, Andrea, Heinzmann, Andrea

    出版 2005
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  16. 16
    Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

    Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 由 Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo

    出版 2019
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  17. 17
    Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

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

    出版 2020
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  18. 18
    Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

    Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome 由 Gioia, Silvio Alessandro Di, Bedoni, Nicola, von Scheven-Gête, Annette, Vanoni, Federica, Superti-Furga, Andrea, Hofer, Michaël, Rivolta, Carlo

    出版 2015
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  19. 19
    The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

    The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Nove... 由 Kumps, Camille, Campos-Xavier, Belinda, Hilhorst-Hofstee, Yvonne, Marcelis, Carlo, Kraenzlin, Marius, Fleischer, Nicole, Unger, Sheila, Superti-Furga, Andrea

    出版 2020
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  20. 20
    Classical homocystinuria, is it safe to exercise?

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

    出版 2021
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