Resultados de procura - M.J.E. Walenkamp
- Mostrando 1 - 9 Resultados de 9
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Children Born Small for Gestational Age: Differential Diagnosis, Molecular Genetic Evaluation, and Implications por Martijn J.J. Finken, Manouk van der Steen, Carolina C J Smeets, M.J.E. Walenkamp, Christiaan de Bruin, Anita Hokken-Koelega, Jan M. Wit
Publicado 2018Revisão -
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Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor por 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
Publicado 2019Artigo -
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A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor por 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
Publicado 2006Artigo -
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Short Stature Associated with a Novel Heterozygous Mutation in the<i>Insulin-Like Growth Factor 1</i>Gene por 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
Publicado 2010Artigo -
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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-&gt;qter Deletion Detected... por 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
Publicado 2008Artigo -
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Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation por 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
Publicado 2006Artigo -
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Homozygous and Heterozygous Expression of a Novel Insulin-Like Growth Factor-I Mutation por 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
Publicado 2005Artigo -
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Copy number variants in patients with short stature por 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
Publicado 2013Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Genetics
Endocrinology
Gene
Medicine
Receptor
Growth factor
Short stature
Internal medicine
Mutation
Insulin-like growth factor
Phenotype
Pregnancy
Growth hormone
Hormone
Copy-number variation
Genome
Growth hormone receptor
Haploinsufficiency
Idiopathic short stature
Insulin-like growth factor 1 receptor
Microcephaly
Missense mutation
Pediatrics
Small for gestational age
Bioinformatics
Birth weight
Candidate gene
Context (archaeology)
Differential (mechanical device)