16 results on '"Van Hoof, Evelien"'
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2. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
3. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
4. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
5. Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
6. BCAP31-related syndrome: The first de novo report
7. Screening of first-degree relatives of IPF patients with a telomere-related gene mutation
8. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
9. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
10. Guidelines for Genetic Testing and Management of Alport Syndrome
11. Guidelines for Genetic Testing and Management of Alport Syndrome
12. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
13. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
14. Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
15. Heterozygous loss-of-function variants of MEIS2cause a triad of palatal defects, congenital heart defects, and intellectual disability
16. A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.
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