Suchergebnisse - Sarina G. Kant

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

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

    Veröffentlicht 2015
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  2. 2
    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 von 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

    Veröffentlicht 2019
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  3. 3
    Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

    Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development von Babacar Cisse, Michele L. Caton, Manfred Lehner, Takahiro Maeda, Stefanie Scheu, Richard M. Locksley, Dan Holmberg, Christiane Zweier, Nicolette S. den Hollander, Sarina G. Kant, Wolfgang Holter, Anita Rauch, Yuan Zhuang, Boris Reizis

    Veröffentlicht 2008
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  4. 4
    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

    A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first von Antoinet C.J. Gijsbers, Janet YK Lew, Cathy A.J. Bosch, Janneke Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S. den Hollander, Sarina G. Kant, Emilia K. Bijlsma, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp

    Veröffentlicht 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 von 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

    Veröffentlicht 2006
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  6. 6
    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome von Christian Gilissen, Heleen H. Arts, Alexander Hoischen, Liesbeth Spruijt, Dorus A. Mans, Peer Arts, Bart van Lier, Marloes Steehouwer, Jeroen van Reeuwijk, Sarina G. Kant, Ronald Roepman, Nine V.A.M. Knoers, Joris A. Veltman, Han G. Brunner

    Veröffentlicht 2010
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  7. 7
    A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

    A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype von Daniel Beltrán Valero de Bernabé, Hans van Bokhoven, Ellen van Beusekom, Willem M.R. van den Akker, Sarina G. Kant, William B. Dobyns, Bru Cormand, Sophie Currier, Ben C.J. Hamel, Beril Talim, Haluk Topaloğlu, Han G. Brunner

    Veröffentlicht 2003
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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->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->qter Deletion Detected... von 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

    Veröffentlicht 2008
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  9. 9
    Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density

    Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density von Sabine E Hannema, Jan M. Wit, Mieke E.C.A.M. Houdijk, Arie van Haeringen, Elsa C. Bik, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sarina G. Kant, Wilma Oostdijk, Egbert Bakker, Henriëtte A. Delemarre‐van de Waal, Monique Losekoot

    Veröffentlicht 2016
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  10. 10
    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

    PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations von Wilma Oostdijk, Jan Idkowiak, Jonathan Wolf Mueller, Philip J House, Angela E. Taylor, Michael O’Reilly, Beverly Hughes, Martine C. de Vries, Sarina G. Kant, Gijs W.E. Santen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Jan M. Wit, Monique Losekoot, Wiebke Arlt

    Veröffentlicht 2015
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  11. 11
    A novel variant of FGFR3 causes proportionate short stature

    A novel variant of FGFR3 causes proportionate short stature von 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

    Veröffentlicht 2015
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  12. 12
    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome von Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan Holder, Gabriele Gillessen‐Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen‐Snuijf, Sarina G. Kant, Lies H. Hoefsloot, William Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath

    Veröffentlicht 2012
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  13. 13
    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

    Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients von Christiane Zweier, Heinrich Sticht, Emilia K. Bijlsma, Jill Clayton‐Smith, Susanne E. Boonen, Alan Fryer, Marie T. Greally, Ling Hoffmann, Nicolette S. den Hollander, Marjolijn C.J. Jongmans, Sarina G. Kant, Matthew King, Sally Ann Lynch, Shane McKee, Alina T. Midro, Park Sm, Valeria Ricotti, E Tarantino, M.W. Wessels, Maarit Peippo, Anita Rauch

    Veröffentlicht 2008
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  14. 14
    Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated<i>Scn2a</i>-deficiency

    Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associated<i>Scn2a</i>-deficiency von Jingliang Zhang, Muriel Eaton, Xiaoling Chen, Yuanrui Zhao, Sarina G. Kant, Brody A. Deming, K Harish, Hien Van Nguyen, Yue Shu, Shirong Lai, Jiaxiang Wu, Zhefu Que, Kyle Wettschurack, Zaiyang Zhang, Tiange Xiao, Manasi Halurkar, Maria I. Olivero-Acosta, Ye-Eun Yoo, Nadia A. Lanman, Wendy A. Koss, William C. Skarnes, Yang Yang

    Veröffentlicht 2025
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  15. 15
    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

    Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome von Nadja Ehmke, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier‐Daire, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer‐Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Céline Huber, Izabela Harabula, Malte Spielmann, Denise Horn, Uwe Kornak, Jochen Hecht, Peter Krawitz, Peter Nürnberg, Reiner Siebert, H Manzke, Stefan Mundlos

    Veröffentlicht 2014
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  16. 16
    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 von 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

    Veröffentlicht 2013
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  17. 17
    Copy number variants in patients with short stature

    Copy number variants in patients with short stature von 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

    Veröffentlicht 2013
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  18. 18
    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype von Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, Denise Horn, Sarina G. Kant, Didier Lacombe, Eyby Leon, Saskia M. Maas, Daniela Melis, Valentina Muto, Soo‐Mi Park, Hilde Peeters, Dorien J.M. Peters, Rolph Pfundt, Conny M.A. van Ravenswaaij‐Arts, Marco Tartaglia, Raoul C. M. Hennekam

    Veröffentlicht 2016
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  19. 19
    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

    Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations von Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik, Bregje W.M. van Bon, Nicole de Leeuw, Aad Verrips, Sarina G. Kant, Elizabeth A. Jones, Han G. Brunner, Rosa Laura E. van Loon, Eric Smeets, Mieke M. van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniené, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas J. J. Maal, Celeste C. van Heumen, Helger G. Yntema, Carine Carels, Tjitske Kleefstra

    Veröffentlicht 2014
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  20. 20
    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux von Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti, David K. Rhee, Conny M.A. van Ravenswaaij‐Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih, L.I. Al-Gazali, Sarina G. Kant, Trevor Cole, Jenny Morton, Valérie Cormier‐Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert Mortier, Jules G. Leroy, Bernhard Zabel, Chong Ae Kim, Yanick J. Crow, Nancy Braverman, Focco van den Akker, Matthew L. Warman

    Veröffentlicht 2004
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