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41 results on '"Pichon, Anne"'

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1. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

2. A measles and rubella vaccine microneedle patch in The Gambia: a phase 1/2, double-blind, double-dummy, randomised, active-controlled, age de-escalation trial

3. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

4. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

5. Exome sequencing in the etiologic assessment of the stroke of the young

6. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

7. Intra- and interchromosomal contact mapping reveals the Igh locus has extensive conformational heterogeneity and interacts with B-lineage genes

8. PLEKHS1 drives PI3Ks and remodels pathway homeostasis in PTEN-null prostate

9. YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse

10. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

11. A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

12. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

13. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

14. Rare pathogenic variants in WNK3 cause X-linked intellectual disability

15. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

16. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

17. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

18. Gene regulatory network inference in long-lived C. elegans reveals modular properties that are predictive of novel aging genes

19. Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant

20. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

21. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

22. High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

23. DLG4-related synaptopathy: a new rare brain disorder

24. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

25. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

26. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

29. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

30. Contractile responses to endothelin-1 are regulated by PKC phosphorylation of cardiac myosin binding protein-C in rat ventricular myocytes

31. Long-Range Enhancer Interactions Are Prevalent in Mouse Embryonic Stem Cells and Are Reorganized upon Pluripotent State Transition

32. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

33. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

34. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

35. Gender Differences in Global but Not Targeted Demethylation in iPSC Reprogramming

36. Localizing the lipid products of PI3Kγ in neutrophils

38. The Rac-FRET Mouse Reveals Tight Spatiotemporal Control of Rac Activity in Primary Cells and Tissues

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