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302 results on '"Attie-Bitach, Tania"'

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1. Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

3. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

5. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

6. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

7. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

8. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

9. First reports of fetal SMARCC1 related hydrocephalus

10. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

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

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

13. Inferring disease course from differential exon usage in the wide titinopathy spectrum.

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

16. Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes

17. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

19. Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes.

20. Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome

21. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

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

23. AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

24. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

26. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

27. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

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

30. Clinical heterogeneity ofNADSYN1‐associated VCRL syndrome

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

34. Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

35. Clinical heterogeneity of NADSYN1‐associated VCRL syndrome.

36. Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans

37. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

38. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

39. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

41. Evolutionary Assembled cis-Regulatory Module at a Human Ciliopathy Locus

44. Epistasis between RET and BBS Mutations Modulates Enteric Innervation and Causes Syndromic Hirschsprung Disease

45. First evidence ofSOX2mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

47. Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

48. Inappropriate p53 activation during development induces features of CHARGE syndrome

49. Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.

50. 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

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