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Your search keyword '"van Haelst, Mieke M"' showing total 25 results

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25 results on '"van Haelst, Mieke M"'

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1. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

3. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

7. Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients

8. Clinical and community genetics services in the Dutch Caribbean

12. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

14. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

15. Clinical utility gene card for: Cantú syndrome

17. Erratum: Further delineation of the KBG syndrome caused by ANKRD11 aberrations

18. Non-invasive sources of cells with primary cilia from pediatric and adult patients

19. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

22. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

23. Dominant missense mutations in ABCC9 cause Cantú syndrome

24. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

25. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

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