12 results on '"Vos, Yvonne J."'
Search Results
2. Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients
3. The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension
4. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
5. PRRT2-related phenotypes in patients with a 16p11.2 deletion
6. Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
7. Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
8. The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
9. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
10. Structural Variation of Chromosomes in Autism Spectrum Disorder
11. Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
12. X-linked hydrocephalus: a novel missense mutation in the L1CAM gene
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