Proefschriften
Dissertations Clinical Genetics
Search the ErasmusMC medical dissertation database
Full text pdf files
Amin, N. (2011).
A genetic epidemiological study of behavioral traits.
Arias Vásquez, A. (2006).
A genetic-epidemiologic study of Alzheimer's disease.
Bakker-van Kempen, K. E. (2002).
Mouse models for the fragile X syndrome.
Berends, A. (2008).
Vascular related pregnancy complications: Genetics and remote cardiovascular risk.
Bertoli Avella, A. M. (2004).
Chasing genes in Alzheimer's and Parkinson's disease.
Bijvoet, A. G. A. (1999).
Therapy for glycogen storage disease type II. Acid α-gludosidase production in milk and enzyme replacement therapy in a mouse model.
Bonifati, V. (2003).
Autosomal recessive, early-onset Parkinson's disease.
Bontekoe, C. J. M. (2001).
CGG repeat instability and FXR proteins.
Brooks, A. (2005).
Genetics of Syndromic and Non-Syndromic Hirschsprung Disease,
Brouwer, J. R. (2008).
The Molecular basis of FXTAS. Rotterdam.
Brusse, E. (2011).
Adult-onset Cereballar Ataxia. A clinical and genetic survey.
Chiurazzi, P. (2001).
Origin and reactivation of the fragile X gene.
Cnossen, M. H. (1997).
Neurofibomatosis type 1.
Clinical and molecular genetic study.
De Graaff, E. (1996).
The fragile X syndrome.
Complex behaviour of a simple retreat.
de Heer, I. M. (2004).
Saethre-Chotzen syndrome.
Craniofacial anomalies caused by genetic changes in the TWIST.
De Jong, E. M. (2010).
Mind the gap. Clinical and molecular-genetic studies in esophageal atresia.
Dekker, M. C. J. (2003).
A genetic-epidemiologic study of Parkinson's disease.
del Pilar, M. M. (2003).
GM1 gangliosidosis and galactosialidosis. Pathology and therapy.
Despriet, D. (2008).
Genetics of age-related macular degeneration. New insights and perspectives.
De Vries, L. B. A. (1997).
The fragile X syndrome. Clinical, genetic and large scale diagnostic studies among mentally retard individuals.
Di Fonzo, A. (2009).
The role of LRRK2 in Parkinson's disease.
Dudok de Wit, A. C. (1997).
To know or not to know. The psychological implications of presymptomatic DNA testing for autosomal dominant inheritable late onset disorders.
Galjaard, R. J. (2003).
Mapping studies of congenital limb anomalies.
Gonzalez Zuloeta Ladd, A. M. (2007).
Genetic determinants of breast cancer.
Hagemans, M. (2006).
Pompe disease in children and adults: natural course, disease severity and impact on daily life.
Havelaar, A. (1999).
Lysosomal membrane transport proteins and their significance in human genetic disease.
Hermans, M. M. P. (1993).
Structural and functional analysis of lysosomal α-glucosidase in relation to glycogen storage disease type II.
Heus, H. C. (1999).
Congenital limb malformations. A study of mice and man. Rotterdam,
Heutink, P. (1993).
Gene mapping of complex disorders. Gilles de la Tourette syndrome and hereditary paragangliomas.
Hoedemaekers, Y. M. (2010).
Genetic aspects and family studies of noncompaction and hypertrophic cardiomyopathy.
Hoppenbrouwers, I. (2011).
Genetic Epidemiological studies of multiple sclerosis.
Horst, G. T. J. v. d. (1993).
Identification and characterization of lysosomal neuraminidase.
Hu, P. (1995).
The molecular basis of carbonic anhydrase II deficiency
Isaacs, A. (2007).
Genetic Epidemiology and Lipids: A pattern so grand and complex.
Janssen, L. A. J. (1995).
Locus heterogeneity and the molecular basis of Tuberous Sclerosis.
Kamphoven, J. (2004).
Pompe's disease. The mouse as model in the development of enzyme therapy.
Klaassens, M. (2007).
Genetic factors in the etiology of congenital diaphragmatic hernia.
Levenga, G. J. (2010).
Experimental approaches towards therapeutic intervention for fragile X syndrome.
Liu, F. (2009).
Methodological approaches to study the genetics of dementia and cognitive function.
Lodder, E. (2009).
Keeping Sonic Hedgehog under the thumb, genetic regulation of limb development.
Lodder, L. N. (2001).
Dealing with the risk for hereditary breast and ovarian cancer. A prospective study on psychologial consequences of choices on genetic testing, surveillance an prophylactic surgery.
Lopez Leon, S. (2008).
Molecular prognostic markers in uveal melanoma. Expression profiling and genomic studies.
Majoor-Krakauer, D. F. (2005).
Genetic Epidemiology of Amyotrophic Lateral Sclerosis,
Meijers-Heijboer, E. J. (2003).
Breast cancer. Predisposing genes & their clinical implications.
Mensink, H. (2010).
Tumor heterogeneity in uveal melanomas.
Michels, M. (2011).
Hypertrophic Cardiomyopathie. Pathophysiology, Genetics and invasive treatment.
Omtzigt, J. G. C. (1992).
Epilepsy, Antiepileptic drugs, and birth defects.
Pardo Cortes, L. M. (2006).
Genetic study of cognitive function.
Reis, S. A. (2005).
Sculpting the brain: the role of FMRP in synaptic plasticity,
Riedijk, S. (2009).
Burdening care. A study on informal caregivers of frontotemporal dementia patients.
Rizzu, P. (2002).
Mutations in frontotemporal dementia linking tau to neurodegeneration.
Roks, C. C. M. A. (2001).
Alzheimer's disease. A genetic epidemiologic approach.
Samrén, B. (1998).
Maternal epilipsy and pregnancy outcome. A population based study.
Sancak, O. (2005).
Tuberous Sclerosis Complex: Mutations, Functions and Phenotypes,
Sayed-Tabatabaei, F. A. (2005).
ACE and Atherosclerosis: pieces of the puzzle.
Schut, A. F. (2004).
In search of cardiovascular risk genes,
Schuur, M. (2010).
Genetic determinants of cognitive function and age-related brain changes.
Sie, M. P. S. (2007).
Genetic determinants of arterial stiffness. Results from the Rotterdam Study.
Sleegers, K. (2004).
Genetic susceptibility to Alzheimer's disease.
Stevens, M. (1998).
Fronto-temporal dementia. A clinical and genetic-epidemiological study.
Tamanini, F. (1999).
The role of the FMR1 protein involved in fragile X syndrome.
Tibben, A. (1993).
What is knowledge but grieving? On psychological effects of presymptomatic DNA-testing for Huntington's disease.
Vaessen, N. (2001).
Genetic determinants of diabetes and vascular complications. A population-based approach.
Van Baren, M. J. (2002).
Thumbs up. Limb mutants elucidating mechanisms of development.
Van den Berg, C. D. F. (2002).
Quality and reliability of prenatal cytogenetics.
Van den Eijnde, S. M. (1999).
Apoptosis and Annexin V.
Van den Hout, J. M. P. (2003).
Enzyme therapy in infantile Pompe's disease. A clinical study on the effect of recombinant human alpha-glucosidase produced in the milk of transgenic rabbits.
Van der Spoel, A. C. (1999).
Protective protein/cathepsin A, neuraminidase and ß-galactosidase: interacting enzymes involved in lysosomal disorders.
Van Dooren, M. F. (2004).
Congenital diaphragmatic hernia. The importance of genetic and environmental factors.
Van Gils, W. (2008).
Molecular prognostic markers in uveal melanoma: Expression profiling and genomic studies.
van Herpen, E. (2004).
Tau on the Map: the role of mutations in FTDP-17.
Van Oostrom, I. (2006).
Family matters. Adjustment to genetic cancer susceptibility testing.
Van Rijn, M. J. E. (2007).
Dissecting the genetics of stroke.
Van Slegtenhorst, M. A. (1998).
Tuberous Sclerosis Complex. Gene identification and characterisation. Rotterdam,
van 't Padje, S. (2007).
Zebrafish as a model to study human disease. Functional studies of the FXR proteins.
Van Zutven, L. J. C. M. (2005).
Cryptic chromosome abnormalities in actue leukemia. Identification and detection.
Verheij, C. (1996).
Characterization of the FMR1 protein involved in the fragile X syndrome.
Verhoef, S. (2001).
Clinical and Molecular Genetics of Tuberous Sclerosis Complex.
Verhoog, L. (2003).
Clinical genetic and oncological aspects of the hereditary breast cancer genes, BRCA1 and BRCA2.
Verkerk, J. M. H. (1994).
The molecular basis of the fragile X syndrome. Expansion of a trinucleotide repeat, a new mutational mechanism.
Wagner, A. (2005).
Molecular and clinical dilemmas.
Wessels, M. W. (2009).
Genetics of congenital heart malformations.
Willemsen, R. (1995).
Gaucher disease. An immunoelectron microscopic and biochemical study.
Winkel, L. (2004).
Enzyme therapy in non-classic Pompe's disease.
Wisselaar, H. A. (1993).
Posttranslational modifications and intracellular transport of lysosomal α-glucosidase and sucrase-isomaltase.
Yazdan Panah, M. (2006).
Genetic determinants of macrovascular complications and mortality in type 2 diabetes.
Zguricas, J. (1997).
Triphalangeal thumb. A study of congenital hand malformation.
Zillikens, M. C. (2009).
The interplay of genes and diet in metabolic diseases and aging.
.