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1. Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene

2. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

4. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

5. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

7. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

8. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?

9. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

11. Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

13. Growth charts in DYRK1A syndrome

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

16. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

17. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

18. Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage

19. Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.

20. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

21. Publisher Correction: Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

23. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

24. Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule

25. Growth charts in DYRK1A syndrome.

26. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

27. Lessons from two series by physicians and caregivers’ self-reported data, and DNA methylation profile in DDX3X-Related Disorders

28. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

29. Karyotype is not dead (yet)!

30. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study

31. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

32. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

33. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

34. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

35. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

36. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

37. Phénotype prénatal des microduplications 22q11 : description de 12 nouveaux cas et Revue de la littérature

38. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

39. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

40. Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

41. DNA methylation episignature in Gabriele-de Vries syndrome

42. Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability

43. Genetics of neural tube defects: new candidate genes and complex mode of inheritance

44. Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

45. Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia

47. Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

48. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

49. High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

50. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

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