418 results on '"Costa, Jean-Marc"'
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2. Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine
3. Cell‐free DNA screening for common autosomal trisomies using rolling‐circle replication in twin pregnancies
4. Performance of cell‐free DNA testing for common fetal trisomies in triplet pregnancies
5. Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage
6. Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study
7. The Molecular Identification and Antifungal Susceptibility of Clinical Isolates of Aspergillus Section Flavi from Three French Hospitals
8. Detection and Quantification of Mycoplasma genitalium in Male Patients with Urethritis
9. Comparison of Serum Galactomannan Antigen Detection and Competitive Polymerase Chain Reaction for Diagnosing Invasive Aspergillosis
10. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
11. Seroprevalence of Toxoplasma gondii and direct genotyping using minisequencing in free-range pigs in Burkina Faso
12. Usefulness and reliability of cell free fetal DNA screening for main trisomies in case of atypical profile on first trimester maternal serum screening
13. Fungal and Bacterial Diversity of Airway Microbiota in Adults with Cystic Fibrosis: Concordance Between Conventional Methods and Ultra-Deep Sequencing, and Their Practical use in the Clinical Laboratory
14. L’information et le consentement de la femme au dépistage prénatal non invasif
15. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
16. L’information et le consentement de la femme au dépistage prénatal non invasif
17. Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin
18. Autoimmune disorders but not heparin are associated with cell-free fetal DNA test failure
19. Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome
20. P006 Resistance of Aspergillus flavus clinical isolates and associated fitness-cost
21. Rapid and Quantitative Detection of Toxoplasma gondii by PCR — A LightCycler Application in Prenatal Diagnosis
22. Prenatal therapy with pyrimethamine + sulfadiazine vs spiramycin to reduce placental transmission of toxoplasmosis: a multicenter, randomized trial
23. Impact of non-invasive fetal RhD genotyping on management costs of rhesus-D negative patients: results of a French pilot study
24. Molecular survey of rodent-borne Trypanosoma in Niger with special emphasis on T. lewisi imported by invasive black rats
25. HCV-GenoFibrotest: A combination of viral, liver and genomic (IL28b, ITPA, UGT1A1) biomarkers for predicting treatment response in patients with chronic hepatitis C
26. Genotyping of the protozoan pathogen Toxoplasma gondii using high-resolution melting analysis of the repeated B1 gene
27. Comments on "Cytomegalovirus (CMV)-Encoded UL144 (Truncated Tumor Necrosis Factor Receptor) and Outcome of Congenital CMV Infection"
28. High diversity of non-sporulating moulds in respiratory specimens of immunocompromised patients: should all the species be reported when diagnosing invasive aspergillosis?
29. Cell-Free DNA Analysis in Maternal Plasma in Cases of Fetal Abnormalities Detected on Ultrasound Examination
30. Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis
31. Diagnostic accuracy of fetal rhesus D genotyping using cell-free fetal DNA during the first trimester of pregnancy
32. XY Sex Reversal Associated with a Deletion 5' to the SRY "HMG Box" in the Testis-Determining Region
33. Genome Alert!: a standardized procedure for genomic variant reinterpretation and automated genotype-phenotype reassessment in clinical routine
34. Coelomic fluid analysis: the absolute necessity to prove its fetal origin
35. New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)
36. Absence of association of IFNL3/IL28B rs 12979860 and IFNL4 ss 469415590 polymorphisms with the neurological status of HTLV-1 Afro-Caribbean subjects in Martinique.
37. A NGS-based Blood Test For the Diagnosis of Invasive HPV-associated Carcinomas with Extensive Viral Genomic Characterization
38. Recherche de l’ADN fœtal dans le sang maternel
39. Fetal DNA in maternal serum: does it persist after pregnancy?
40. Towards a nucleic acid-based diagnosis in clinical parasitology and mycology
41. Mesenchymal Activin-A Overcomes Defective Human Trisomy 21 Trophoblast Fusion
42. Low prevalence of resistance to azoles in Aspergillus fumigatus in a French cohort of patients treated for haematological malignancies
43. Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies
44. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
45. First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia
46. Towards a molecular diagnosis of invasive aspergillosis and disseminated candidosis
47. Fetal RhD genotyping by maternal serum analysis: A two-year experience
48. Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Blood
49. Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light
50. Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin?
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