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20 results on '"van Hasselt, Peter"'

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1. Evolutionary conservation of the fidelity of transcription

2. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)

4. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

5. Aminoacyl-tRNA synthetase deficiencies in search of common themes

8. Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

9. Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis

10. Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

11. Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure

12. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

13. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

16. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

19. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

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