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Your search keyword '"Guy Lalau"' showing total 27 results

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1. Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

2. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

4. Novel ADGRG2 truncating variants in patients with X‐linked congenital absence of vas deferens

5. Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

6. WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

7. CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

8. WS17.1 The multi-faceted nature of CFTR exonic mutations: impact on their functional classification

9. Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

10. WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations

11. WS15.1 CysMA, a new tool for the interpretation of rare CFTR missense variants

12. Axonemal Dynein Intermediate-Chain Gene (DNAI1) Mutations Result in Situs Inversus and Primary Ciliary Dyskinesia (Kartagener Syndrome)

13. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

14. CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

15. 4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

16. WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

17. CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

18. p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative study: p.Ser1235Arg is not associated with CF disease

19. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

20. A new largeCFTRrearrangement illustrates the importance of searching for complex alleles

22. Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis

23. Diagnosis of Leber's hereditary optic neuropathy without neurological abnormalities

24. Abnormal distribution of cystic fibrosis ΔF508 allele in adults with chronic bronchial hypersecretion

26. Comprehensive analysis of the French NBS cohort: Excellent mutation detection rate despite high allelic heterogeneity

27. A French collaborative study indicative of a very low classical-CF penetrance of R117H; implications for genetic counselling

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