528 results on '"Génin, Emmanuelle"'
Search Results
2. Human genetic structure in Northwest France provides new insights into West European historical demography
3. Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
4. How local reference panels improve imputation in French populations
5. Thirty Years of Research into Rendu-Osler-Weber Disease in France: Historical Demography, Population Genetics and Molecular Biology
6. The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
7. CHCHD10S59L/+ mouse model: Behavioral and neuropathological features of frontotemporal dementia
8. Robust and Imperceptible Watermarking Scheme for GWAS Data Traceability
9. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
10. A Hybrid Cloud Deployment Architecture for Privacy-Preserving Collaborative Genome-Wide Association Studies
11. Heritability: What's the point? What is it not for? A human genetics perspective
12. Secure Multilayer Perceptron Based On Homomorphic Encryption
13. Expanding ACMG variant classification guidelines into a general framework
14. Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage
15. Auteurs
16. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
17. PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis
18. 49th European Mathematical Genetics Meeting (EMGM) 2021 : Paris, France, April 22 – 23, 2021
19. Rare variant association testing in the non-coding genome
20. The genetic history of France
21. Secure Multilayer Perceptron Based on Homomorphic Encryption
22. Dynamic Watermarking-Based Integrity Protection of Homomorphically Encrypted Databases – Application to Outsourced Genetic Data
23. Estimating the age of the founding French P.(Ser127Arg) mutation in PCSK9
24. Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases
25. Missing heritability of complex diseases: case solved?
26. Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
27. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
28. Hypogonadotropic Hypogonadism Due to Loss of Function of the KiSS1-Derived Peptide Receptor GPR54
29. Rapid Progression to AIDS in HIV + Individuals with a Structural Variant of the Chemokine Receptor CX 3CR1
30. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
31. Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
32. WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
33. Ravages: An R package for the simulation and analysis of rare variants in multicategory phenotypes
34. Highlighting the impact of cascade carrier testing in cystic fibrosis families
35. Relationship inference from the genetic data on parents or offspring: A comparative study
36. Population Stratification of Rare Variants
37. Genetics and postsurgical neuropathic pain: An ancillary study of a multicentre survey
38. Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance
39. Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis
40. Neuronal Differentiation in the Adult Brain: CDK6 as the Molecular Regulator
41. Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish
42. Correction: The genetic history of France
43. Validation of the ACMG/AMP guidelines-based seven-category variant classification system
44. Opening the Black-box of Imputation Software to Study the Impact of Reference Panel Composition on Performance
45. LXR antagonists induce ABCD2 expression
46. Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics
47. Revisiting the Polygenic Additive Liability Model through the Example of Diabetes Mellitus
48. Editor’s Note
49. The Missing Heritability Paradigm : A Dramatic Resurgence of the GIGO Syndrome in Genetics
50. 43rd European Mathematical Genetics Meeting (EMGM) 2015 : April 16-17, 2015, Brest, France
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