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Your search keyword '"De Jonghe P"' showing total 13 results

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13 results on '"De Jonghe P"'

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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. De novo variants in neurodevelopmental disorders with epilepsy

3. Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy

4. Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

5. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

6. The genetics of Dravet syndrome

7. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

9. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients

10. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

11. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

12. De novo SCN1A mutations in migrating partial seizures of infancy

13. Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity

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