List of projects by field of study



Below you see a list of researchprojects within a certain field of study. Please use the selectbox to view researchprojects of another field of research.

It  is also possible to search for keywords.

Click the title of a researchproject for more details.

 

A search for novel genes causing familial hypercholesterolemia on the former island of Urk

Researchers
Prof. dr. T.P.W. Kamphuisen
dr. J.A. Kuivenhoven
J. Balder

Keywords:
(medical)genetics familial hypercholesterolemia

Characteristics of breast and ovarian cancer in women with a PALB2-mutation

Researchers
Prof. dr. G.H. de Bock
I.A.S. Stroot

Keywords:
oncological epidemiology PALB2 mutation clinical genetics

Chromosome 6 Project: unravelling chromosome 6 aberrations with the help of Facebook

Researchers
prof. dr. C.M.A. van Ravenswaaij-Arts
A. Engwerda

Keywords:
chromosome Social media

Clonal hematopoiesis and cardiovascular disease after autologous hematopoietic cell transplantation

Researchers
prof.dr. E. Vellenga
dr. G.A. Huls
I.A. van Zeventer

Keywords:
cardiovascular hematopoiesis mutations

Colitis ulcerosa en de ziekte van Crohn:onderzoek naar genetische en omgevings risicofactoren

Researchers
prof. dr. G. Dijkstra
prof. dr. R.K. Weersma

Keywords:
epidemiology ulcerative colitis Crohn's disease

De waarde van genetische diagnostiek (next-generation sequencing) bij jonge patiënten met nierfalen

Researchers
Dr. M.H. de Borst
drs. A. de Haan

Keywords:
(medical)genetics Chronic Kidney Disease hereditary kidney disease

Deciphering the role of STAP1 in cholesterol metabolism

Researchers
Prof. dr. T.P.W. Kamphuisen
dr. J.A. Kuivenhoven
J. Balder

Keywords:
knockout mouse functional genetics (medical)genetics

Drosophila as model organism for neurodegeneration and aging

Researchers
prof. dr. O.C.M. Sibon

Keywords:
ageing neurodegenerative diseases Drosophila

Drosophila models to understand rare genetic disorders

Researchers
No researchers found

Keywords:
Drosophila neurodegeneration genetics

Een C. elegans model voor de ziekte van Parkinson

Researchers
No researchers found

Keywords:
Parkinson's disease laboratory animals molecular mechanisms

Epigenetic architecture of Dupuytren’s disease

Researchers
prof.dr. P.M.N. Werker
dr. Ilja M. Nolte
Sophie A. Riesmeijer

Keywords:
Dupuytren's disease (Epi)genetic epidemiology Precision medicine

Essential tremor in families

Researchers
prof. dr. M.A.J. de Koning-Tijssen
Dr. A.M.M. van der Stouwe
drs. C.S.J. Everlo

Keywords:
genetics Essential tremor Family history

Experiences of pregnant women and their partners with prenatal emergency diagnostics by means of genetic testing (prenatal whole exome sequencing)

Researchers
prof. dr. A.V. Ranchor
Prof. I.M. van Langen
J. El Mecky

Keywords:
prenatal diagnostics patient experiences genetic testing

Functional characterization of genetic susceptibility variants of Celiac disease

Researchers
V. Kumar
dr. S. Withoff
prof. dr. C. Wijmenga

Keywords:
transcription factor celiac disease autoimmune disease EMSA ChIP assay

Genetic causes of hypoplastic left heart syndrome

Researchers
prof. dr. R.H. Sijmons
dr. C.C. van Diemen
M. Kerstjens

Keywords:
cardiogenetics hypoplastic left heart syndrome

Genetic origin of Dupuytren's disease and associated fibromatosis

Researchers
drs. G.H.C.G. Dolmans
prof.dr. P.M.N. Werker

Keywords:
plastic surgery hand Dupuytren's disease

Genetics in Parkinson's disease

Researchers
prof. dr. T. van Laar
Dr. F. Vansenne

Keywords:
(medical)genetics Parkinson's disease

Genetics of asthma: the role of Protocadherin-1 in airway epithelial integrity and function.

Researchers
M.C. Nawijn

Keywords:
asthma functional genetics bronchial epithelium

How do tumor cells survive genomic instability?

Researchers
dr. M.A.T.M. van Vugt
Dr. R.S.N. Fehrmann

Keywords:
breast cancer genomic instability bio-informatics

Hunting for the second gene that causes CHARGE syndrome

Researchers
No researchers found

Keywords:
deletion exome sequencing CHARGE syndrome

Inducing regeneration through manipulation of Wnt signaling

Researchers
dr. P.M. Weissert
Prof. dr. E.V. Berezikov

Keywords:
stem cells regeneration Wnt signaling

Inheritability & genetics in essential tremor

Researchers
prof. dr. M.A.J. de Koning-Tijssen
Dr. A.M.M. van der Stouwe

Keywords:
genetics Essential tremor Family history

Investigating the role of lincRNAs in autoimmune diseases

Researchers
dr. S. Withoff
V. Kumar
prof. dr. C. Wijmenga

Keywords:
RNA celiac disease autoimmune disease

Key Biological Pathways for the Complex Mixed Phenotypes in Primary Childhood Ataxia

Researchers
prof. dr. M.A.J. de Koning-Tijssen
Dr. D.A. Sival
Dr. D.S. Verbeek

Keywords:
Dystonia (medical)genetics Early Onset Ataxia

Liver disease and Next generation sequencing: a solution to the diagnostic problem?

Researchers
dr. K.E. Niezen-Koning
dr. T.J. de Koning

Keywords:
genetics liver metabolic diseases

Onderzoek naar het ontstaan en beloop van coeliakie (glutenintolerantie).

Researchers
prof. dr. C. Wijmenga
dr. S. Withoff
prof. dr. R.K. Weersma

Keywords:
celiac disease

Parental perspectives of the care for a rare genetic disorder: Phelan-McDermid syndrome

Researchers
Prof. dr. C.M.A. van Ravenswaaij-Arts
dr. M.J. de Groot

Keywords:
parental support Guidelines Phelan-McDermid syndrome

Predictive models for radiation-induced side effects in head and neck cancer based on single nucleotide polymorphisms (SNP)

Researchers
Dr. A.P.G. Crijns

Keywords:
Head and neck cancer prediction modeling Single Nucleotide Polymorphisms (SNP)

Prevalence of X-linked hypophospatemic rickets (XLH) in the Netherlands and the relation between genotype and phenotype in children.

Researchers
dr. P. Rump
Dr. A.M. Boot

Keywords:
hypophospatemic rickets

Rapid whole exome sequencing in prenatal genetic diagnostics for ultrasound abnormalities

Researchers
dr. C.C. van Diemen
dr. H. Westers
drs. K. Bouman
drs. N. Corsten-Jansen

Keywords:
phenotype-genotype study whole exome sequencing prenatal diagnostics

Regulation of aging and age-related disease by transcription factors, chromatin states, and the epigenome

Researchers
dr. C.G. Riedel

Keywords:
epigenetics transcriptional regulation aging

Somatic mutations in peripheral blood of healthy individuals (clonal hematopoiesis); clinical implications and relation to ageing manifestations of the hematopoietic system

Researchers
dr. G.A. Huls
I.A. van Zeventer

Keywords:
leukemia hematopoiesis mutations

Survival after cancer in PMS2-associated Lynch syndrome patients

Researchers
S.W. Bajwa- ten Broeke
K.D. Andini

Keywords:
survival lynch syndrome hereditary cancer

The airway epithelium in asthma susceptibility: towards a cure for asthma.

Researchers
Prof. dr. G.H. Koppelman

Keywords:
Mouse models Asthma genes airway epithelium

The effect of CHD7 deletions and duplications

Researchers
No researchers found

Keywords:
CHARGE syndrome deletion duplication

The incidence of contralateral breast cancer in women with a BRCA1/2 mutation: the role of family history

Researchers
Prof. dr. G.H. de Bock
L. Jansen
Dr. J.C. Oosterwijk
Dr. B. van der Vegt

Keywords:
breast cancer BRCA1/2 Personalized medicine

The outcomes of ten year follow-up of relatives at risk for sudden death due to dilatation/ dissection of the aorta: time for improvement?

Researchers
Prof. I.M. van Langen
drs. K. Nieuwhof
Dr. E. Birnie

Keywords:
Outcomes Relatives Aorta

Unraveling the causative genes – and pathways - for autoimmune diseases

Researchers
V. Kumar
dr. S. Withoff
prof. dr. C. Wijmenga

Keywords:
pathway analysis celiac disease autoimmune disease gene enrichment T cell genes

Unraveling the genetic and biological pathways of spinocerebellar ataxia

Researchers
Dr. D.S. Verbeek

Keywords:
neurodegeneration exome sequencing human genetics

Unravelling Vici-like syndrome in the Netherlands

Researchers
Dr. D.S. Verbeek
Dr. F. Vansenne
Drs. J.M. Fock

Keywords:
genotype-phenotype correlation collect clinical information syndrome

Using next generation sequencing to find causative genes in patients with severe microcephaly

Researchers
dr. P. Rump

Keywords:
microcephaly mental retardation exome sequencing

Which syndromes are associated with paediatric dilated cardiomyopathy (DCM) and how to recognize these? A systematic review of the literature.

Researchers
Prof. I.M. van Langen
Drs. J.C. Herkert
Prof. M.P. van den Berg

Keywords:
pediatric cardiology cardiogenetics dilated cardiomyopathy

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