Hasil Pencarian - Alexander Gheldof

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  1. 1
    Intra‐amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants

    Intra‐amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants oleh Olivier G. Pollé, Alexander Gheldof, Philippe A. Lysy, Pierre Bernard

    Diterbitkan 2021-09-01
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  2. 2
    Ascites in infantile onset type II Sialidosis

    Ascites in infantile onset type II Sialidosis oleh Kaoutar Tazi, Vanessa Guy‐Viterbo, Alexander Gheldof, Aurélie Empain, Anne Paternoster, Corinne De Laet

    Diterbitkan 2022-07-01
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  3. 3
    Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

    Case report: Coexistence of myotonia congenita and Brugada syndrome in one family oleh Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay

    Diterbitkan 2022-09-01
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  4. 4
    Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers

    Identification of RAD17 as a candidate cancer predisposition gene in families with histories of pancreatic and breast cancers oleh Sofie Joris, Philippe Giron, Catharina Olsen, Sara Seneca, Alexander Gheldof, Shula Staessens, Rajendra Bahadur Shahi, Sylvia De Brakeleer, Erik Teugels, Jacques De Grève, Frederik J. Hes

    Diterbitkan 2024-06-01
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  5. 5
    Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing

    Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing oleh Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L. Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S. Swanson, Alexander Gheldof, Claudia Spits, D. Karen

    Diterbitkan 2022-01-01
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  6. 6
    Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis

    Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis oleh Asma Sassi, M.D., Julie Désir, M.D., Ph.D., Véronique Janssens, B.Sc., Martina Marangoni, M.Sc., Dorien Daneels, M.Sc., Alexander Gheldof, Ph.D., Maryse Bonduelle, M.D., Ph.D., Sonia Van Dooren, Ph.D., Sabine Costagliola, Ph.D., Anne Delbaere, M.D., Ph.D.

    Diterbitkan 2020-12-01
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  7. 7
    The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

    The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres oleh Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti

    Diterbitkan 2022-11-01
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