Search Results - C. Noordam
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Prader–Willi Syndrome and Hypogonadism: A Review Article by C. Noordam, Charlotte Höybye, Urs Eiholzer
Published 2021Revisão -
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Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births by A. S. Slingerland, Beverley Shields, Sarah E. Flanagan, G.J. Bruining, C. Noordam, Agnieszka Gach, Wojciech Młynarski, Maciej T. Małecki, Andrew T. Hattersley, Sian Ellard
Published 2009Carta -
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Inactivating<i>PAPSS2</i>Mutations in a Patient with Premature Pubarche by C. Noordam, Vivek Dhir, Joanne McNelis, Florian Schlereth, Neil A. Hanley, Nils Krone, Jan Smeitink, Roel Smeets, Fred C.G.J. Sweep, Hedi L. Claahsen‐van der Grinten, Wiebke Arlt
Published 2009Artigo -
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Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations by Anna L. Gloyn, C. Noordam, Michèl A.A.P. Willemsen, Sian Ellard, Wayne Lam, Ian W Campbell, Paula Midgley, Chyio Shiota, Carol Buettger, Mark A. Magnuson, Franz M. Matschinsky, Andrew T. Hattersley
Published 2003Artigo -
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Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene by 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
Published 2010Artigo -
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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation by Marjolijn C.J. Jongmans, Ineke van der Burgt, Peter M. Hoogerbrugge, C. Noordam, Helger G. Yntema, Willy M. Nillesen, Roland P Kuiper, Marjolijn J. L. Ligtenberg, Ad Geurts van Kessel, J. Han van Krieken, Lambertus A. Kiemeney, Nicoline Hoogerbrugge
Published 2011Artigo -
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Adult Height in Short Children Born SGA Treated with Growth Hormone and Gonadotropin Releasing Hormone Analog: Results of a Randomized, Dose-Response GH Trial by Annemieke J. Lem, Daniëlle C M van der Kaay, Maria de Ridder, Willie M. Bakker‐van Waarde, Flip J. P. C. M. van der Hulst, Jaap C. Mulder, C. Noordam, Roel J. H. ODINK, Wilma Oostdijk, Eelco J. Schroor, Eric J. Sulkers, Ciska Westerlaken, Anita C. S. Hokken‐Koelega
Published 2012Artigo -
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Copy number variants in patients with short stature by 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
Published 2013Artigo -
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Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by<i>TPIT</i>Gene Mutations by Sophie Vallette-Kasic, Thierry Brue, Anne-Marie Pulichino, Magali Gueydan, Anne Barlier, M David, Marc Nicolino, G Malpuech, Pierre Déchelotte, Cheri Deal, Guy Van Vliet, Monique De Vroede, Felix G. Riepe, Carl‐Joachim Partsch, Wolfgang G. Sippell, Merih Berberoğlu, Begüm Atasay, Francis de Zegher, Dominique Beckers, Jennifer Kyllo, Patricia A. Donohoue, Martin Faßnacht, Stefanie Hahner, Bruno Allolio, C. Noordam, Leo Dunkel, Matti Hero, B. Pigeon, Jacques Weill, Sevket Yigit, Raja Brauner, Juan J. Heinrich, Elizabeth A. Cummings, Christie Riddell, A Enjalbert, Jacques Drouin
Published 2005Artigo
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Endocrinology
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Short stature
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Insulin
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Noonan syndrome
Optics
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Growth hormone deficiency
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KRAS
PTPN11
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Allosteric regulation
Androgen