M. F. Dooren

发表

Donna M. Martin, Marc S. Williams, E. Roeder, 2019, Human mutation.

Adeline, Marc S. Williams, E. Roeder, 2019 .

Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping

Peter H. L. Krijger, J. Foekens, A. Das, 2014, Nature Biotechnology.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

University of Groningen Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers Rijken

O. Dekkers, H. Timmers, E. Corssmit, 2019 .

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers

O. Dekkers, C. Leemans, H. Timmers, 2019, Cancers.

The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers

C. Leemans, H. Timmers, E. Corssmit, 2018, Clinical genetics.

Postmortem Findings and Clinicopathological Correlation in Congenital Diaphragmatic Hernia

D. Tibboel, A. Klein, R. Krijger, 2004, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

P. Donahoe, D. Tibboel, C. Lee, 2005, American journal of human genetics.

Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas

R. B. van der Luijt, M. Robledo, R. Feelders, 2018, Clinical genetics.

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2

F. Couch, B. Bonanni, T. Rebbeck, 2011, British Journal of Cancer.

Genetic counselling legislation and practice in cancer in EU Member States

K. Stamatopoulos, L. Leitsalu, D. Primorac, 2024, European journal of public health.