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1. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

2. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

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

5. Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)

6. Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A

7. Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

8. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

9. Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

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

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

12. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

13. Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

14. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

15. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

16. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

17. A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder

18. Penetrance, variable expressivity and monogenic neurodevelopmental disorders

20. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

21. MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

23. A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort

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

25. Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

26. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

27. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

28. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

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

30. Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France

32. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

33. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

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

35. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

37. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

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

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

40. Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

42. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

43. UQCRC2-related mitochondrial complex III deficiency, about 7 patients

45. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

46. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

47. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

49. TRIT1 deficiency: Two novel patients with four novel variants

50. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

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