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470 results on '"van Geel, M."'

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1. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing.

2. Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.

3. Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

4. HRAS mosaicism in linear palmoplantar keratoderma

5. Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

7. 819 International cohort of 19 patients with CARD14-associated papulosquamous eruption: The quest for a genotype-phenotype correlation and successful therapeutic intervention

8. 824 Expanding the spectrum of autosomal recessive congenital ichthyosis caused by variants in NIPAL4 and PNPLA1 and evaluation of biologics interventions

12. HRAS mosaicism in linear palmoplantar keratoderma.

14. A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)

15. Global maps of soil temperature

24. 085 Hypohidrosis, ichthyosis and hypokalemia: HELIX syndrome

29. Global maps of soil temperature

30. Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

31. Pathogenic Neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

50. Towards certified learning assistants for improving educational quality

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