Neonatal Screening: Identification of Children with 11-Hydroxylase Deficiency by Second-Tier Testing.
Published: Horm Res Paediatr 2012;77:195199
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Archived publications
older then 10 yearsHyperferritinämie und Eisenmangel eine außergewöhnliche Liaison. Forum Med Suisse 2011; 11(5): 8788.
Published: Artikel online unter www.medicalforum.ch.
Clinical utility gene card for: Phenylketonuria
Published: Eur J Hum Genet. 2012 Feb; 20(2) Published online 2011 Sep 14. doi: 10.1038/ejhg.2011.172 PMCID: PMC3260912
Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?
Published: The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, the Netherlands. Gut. 2012 May;61(5):734-8. doi: 10.1136/gut.2010.229104. Epub 2011 Aug 16.
Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a swiss family.
Published: European Journal of Haematology Abstrakt unter Eur J Haematol. 2011 Mar 15. doi: 10.1111/j.1600-0609.2011.01607.x.
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients
Published: Journal of the National Cancer Institute/ J Natl Cancer Inst. 2010 Nov 17;102(22):1724-30. doi: 10.1093/jnci/djq370. Epub 2010 Nov 2.
MUTYH-associated polyposis
Published: In: Rodriguez-Bigas MA, Cutait R, Lynch PM, Tomlinson I, Vasen HF (eds): Hereditary Colorectal Cancer. Springer Verlag, 2010, 349-364.
Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease.
Published: Circ Cardiovasc Genet 2010 3: 374-385.
Klinik und Genetik des familiären Darmkrebses
Published: Medizinische Genetik, June 2010, Volume 22, Issue 2, pp 265-281
Case Report. Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
Published: International Association for the Study of Obesity, Obesity Reviews, October 20, 2009
Archived publications
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