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23 results on '"Weber, Sacha"'

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1. Systematic analysis of SCN5A variants associated with inherited cardiac diseases

2. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

3. Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype.

4. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

5. Developmental epileptic encephalopathy in DLG4-related synaptopathy

6. Unveiling the crucial neuronal role of the proteasomal ATPase subunit genePSMC5in neurodevelopmental proteasomopathies

8. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

9. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

10. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

11. TwoRFC1splicing variants in CANVAS

14. SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

16. Les défauts multiples de l’empreinte sont des évènements rares dans les Pseudohypoparathyroïdies de type 1b (PHP1b) sporadiques

17. Two RFC1 splicing variants in CANVAS.

19. Utilisation de photographies hémisphériques sous le couvert forestier guyanais

21. Developmental epileptic encephalopathy in DLG4-related synaptopathy.

22. Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

23. [Genetics of amyotrophic lateral sclerosis].

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