Výsledky vyhledávání - Hermine A. van Duyvenvoorde

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  1. 1
    MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

    MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature Autor Jan M. Wit, Wilma Oostdijk, Monique Losekoot, Hermine A. van Duyvenvoorde, Claudia Ruivenkamp, Sarina G. Kant

    Vydáno 2015
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  2. 2
    Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives

    Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives Autor Matthis Synofzik, Willeke M. C. van Roon‐Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graeßner, Rebecca Schüle, Annemieke Aartsma‐Rus

    Vydáno 2021
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  3. 3
    Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

    Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor Autor M.J.E. Walenkamp, Jasmijn M L Robers, Jan M. Wit, Gladys R.J. Zandwijken, Hermine A. van Duyvenvoorde, Wilma Oostdijk, Anita Hokken-Koelega, Sarina G. Kant, Monique Losekoot

    Vydáno 2019
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  4. 4
    Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

    Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences Autor Horacio M. Domené, Vivian Hwa, Jesús Argente, Jan M. Wit, Cecilia Camacho-Hübner, Héctor Jasper, Jesús Pozo, Hermine A. van Duyvenvoorde, Shoshana Yakar, Olga V. Fofanova-Gambetti, Ron G. Rosenfeld

    Vydáno 2009
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  5. 5
    A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

    A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor Autor M.J.E. Walenkamp, H.J. van der Kamp, Alberto M. Pereira, Sarina G. Kant, Hermine A. van Duyvenvoorde, M. Femke Kruithof, M.H. Breuning, Johannes A. Romijn, Marcel Karperien, J. M. Wit

    Vydáno 2006
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  6. 6
    An<i>XRCC4</i>Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome

    An<i>XRCC4</i>Splice Mutation Associated With Severe Short Stature, Gonadal Failure, and Early-Onset Metabolic Syndrome Autor Christiaan de Bruin, Verónica Mericq, Shayne F. Andrew, Hermine A. van Duyvenvoorde, Nicole S. Verkaik, Monique Losekoot, Aleksey Porollo, Hernán García, Yi Kuang, Dan Hanson, Peter Clayton, Dik C. van Gent, Jan M. Wit, Vivian Hwa, Andrew Dauber

    Vydáno 2015
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  7. 7
    Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene

    Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene Autor Hermine A. van Duyvenvoorde, P.A. van Setten, M.J.E. Walenkamp, J. van Doorn, Jens Koenig, Lisbeth Gauguin, Wilma Oostdijk, Claudia Ruivenkamp, Monique Losekoot, John D. Wade, Pierre De Meyts, Marcel Karperien, C. Noordam, Jan M. Wit

    Vydáno 2010
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  8. 8
    Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2-&amp;gt;qter Deletion Detected by Multiplex Ligation Probe Amplification

    Successful Long-Term Growth Hormone Therapy in a Girl with Haploinsufficiency of the Insulin-Like Growth Factor-I Receptor due to a Terminal 15q26.2-&amp;gt;qter Deletion Detected... Autor M.J.E. Walenkamp, Sabine M.P.F. de Muinck Keizer‐Schrama, Marianne de Mos, M.E. Kalf, Hermine A. van Duyvenvoorde, Annemieke M. Boot, Sarina G. Kant, Stefan J. White, Monique Losekoot, Johan T. den Dunnen, Marcel Karperien, Jan M. Wit

    Vydáno 2008
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  9. 9
    Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation

    Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation Autor Sólrún Vidarsdóttir, M.J.E. Walenkamp, Alberto M. Pereira, Marcel Karperien, Jaap van Doorn, Hermine A. van Duyvenvoorde, Stefan J. White, Martijn H. Breuning, Ferdinand Roelfsema, M. Femke Kruithof, Jaap van Dissel, Riny Janssen, Jan M. Wit, Johannes A. Romijn

    Vydáno 2006
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  10. 10
    A novel variant of FGFR3 causes proportionate short stature

    A novel variant of FGFR3 causes proportionate short stature Autor Sarina G. Kant, Iveta Cervenkova, Lukáš Bálek, Lukáš Trantı́rek, Gijs W.E. Santen, Martine C. de Vries, Hermine A. van Duyvenvoorde, Michiel J.R. van der Wielen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sabine E Hannema, Jan M. Wit, Wilma Oostdijk, Pavel Krejčı́, Monique Losekoot

    Vydáno 2015
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  11. 11
    Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium

    Impact of Heterozygosity for Acid-Labile Subunit (IGFALS) Gene Mutations on Stature: Results from the International Acid-Labile Subunit Consortium Autor Olga V. Fofanova-Gambetti, Vivian Hwa, Jan M. Wit, Horacio M. Domené, Jesús Argente, Peter Bang, Wolfgang Högler, Susan Kirsch, Catherine Pihoker, Harvey K. Chiu, Laurie E. Cohen, Christina M. Jacobsen, Héctor Jasper, G. Haeusler, Ángel Campos‐Barros, Elena Gallego-Gómez, Ricardo Gracia‐Bouthelier, Hermine A. van Duyvenvoorde, Jesús Pozo, Ron G. Rosenfeld

    Vydáno 2010
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  12. 12
    Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation

    Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation Autor M.J.E. Walenkamp, Marcel Karperien, Alberto M. Pereira, Yvonne Hilhorst‐Hofstee, J. van Doorn, J. W. Chen, Subburaman Mohan, Adam Denley, Briony E. Forbes, Hermine A. van Duyvenvoorde, Sandra van Thiel, C. A. Sluimers, Jeroen J. Bax, J. A. P. M. de Laat, MH Breuning, Johannes A. Romijn, J. M. Wit

    Vydáno 2005
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  13. 13
    An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

    An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities Autor Sabine E Hannema, Hermine A. van Duyvenvoorde, Thomas Premsler, Ruey‐Bing Yang, Thomas D. Mueller, Birgit Gaßner, Heike Oberwinkler, Ferdinand Roelfsema, Gijs W.E. Santen, Timothy C. R. Prickett, Sarina G. Kant, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Eric A. Espiner, Claudia Ruivenkamp, Wilma Oostdijk, Alberto M. Pereira, Monique Losekoot, Michaela Kühn, Jan M. Wit

    Vydáno 2013
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  14. 14
    Copy number variants in patients with short stature

    Copy number variants in patients with short stature Autor Hermine A. van Duyvenvoorde, Julian C. Lui, Sarina G. Kant, Wilma Oostdijk, Antoinet C.J. Gijsbers, Mariëtte J.V. Hoffer, Marcel Karperien, M.J.E. Walenkamp, C. Noordam, Paul G. Voorhoeve, Verónica Mericq, Alberto M. Pereira, Hedi L Claahsen-van de Grinten, Sandy A. van Gool, Martijn H. Breuning, Monique Losekoot, Jeffrey Baron, Claudia Ruivenkamp, Jan M. Wit

    Vydáno 2013
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