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1. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

2. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

4. Monoallelic CRMP1 gene variants cause neurodevelopmental disorder

5. RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features

7. Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

9. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

10. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

11. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

12. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

13. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

14. ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

16. Duplication 16p13.3 and the CREBBP gene: Confirmation of the phenotype

17. A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

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