H. A. Duyvenvoorde

发表

Growth hormone secretion and immunological function of a male patient with a homozygous STAT 5 b mutation

R. Janssen, J. Romijn, J. Wit, 2007 .

Growth hormone secretion and immunological function of a male patient with a homozygous STAT 5 b mutation 5

Ferdinand, R. Janssen, J. Wit, 2007 .

Homozygous and heterozygous expression of a novel IGF-I mutation 6

Jeroen J. Bax, J. Romijn, S. Mohan, 2007 .

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation.

C. Ruivenkamp, M. Losekoot, J. Wit, 2012, European journal of endocrinology.

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the IGF-I receptor due to a terminal 15 q 26 . 2-> qter deletion detected by multiplex ligation probe amplification

J. T. Dunnen, S. White, M. Losekoot, 2008 .

Succesful long-term growth hormone therapy in a girl with haploinsufﬁciency of the IGF-I receptor due to a terminal 15q26.2 (cid:18) qter deletion 9

Marcel, M. Losekoot, J. Wit, 2007 .

Clinical and biochemical characteristics of a male patient with a novel homozygous STAT 5 b mutation 4

Marcel, R. Janssen, J. Romijn, 2007 .

Structural and functional characteristics of the Val 44 Met IGF-I missense mutation: correlation with effects on growth and development

R. Norton, J. Wallace, J. Wit, 2007 .

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L. D. Boer, J. Wit, M. Karperien, 2006 .

Novel genetic causes of short stature

C. Ruivenkamp, M. Losekoot, J. Wit, 2016 .

Copy number variants in patients with short stature

J. Baron, J. Lui, C. Ruivenkamp, 2013, European Journal of Human Genetics.

A novel activating mutation in the kinase homology domain of natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities

A. Uitterlinden, C. Ruivenkamp, M. Losekoot, 2013 .

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the IGF-I receptor

J. Romijn, J. Wit, M. Breuning, 2007 .

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor.

J. Romijn, H. V. van Duyvenvoorde, J. Wit, 2006, The Journal of clinical endocrinology and metabolism.

Case report: low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function.

M. Cramer, H. V. van Duyvenvoorde, J. Wit, 2011, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

H. Delemarre-van de Waal, C. Ruivenkamp, H. V. van Duyvenvoorde, 2012, Hormone Research in Paediatrics.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

R Pfundt, R. Pfundt, N. de Leeuw, 2008, Journal of Medical Genetics.