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1. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

2. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

3. TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

4. Searching for homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability

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

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

7. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

9. RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront

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

12. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

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

15. Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.

17. Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.

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

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

20. Age-related pathological impairments in directly reprogrammed dopaminergic neurons derived from patients with idiopathic Parkinson’s disease

23. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

24. Co-creating a Shared Vision Post-Covid a Health and Human Services Organisation.

26. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

28. A single base pair duplication in the SLC33A1 gene is associated with fetal losses and neonatal lethality in Manech Tête Rousse dairy sheep.

29. De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

30. Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.

31. Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

32. Variant-specific pathophysiological mechanisms ofAFF3differently influence transcriptome profiles

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

35. Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

36. The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

40. A clinical scoring system for congenital contractural arachnodactyly

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

42. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

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

44. Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

45. Duplication of 10q24 locus: broadening the clinical and radiological spectrum

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

48. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations

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

50. Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia

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