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

5. Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

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

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

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

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

13. Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS).

14. Fetal Presentation of MYRF‐Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.

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

16. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

17. Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

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

20. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

22. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

23. Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

25. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS):new insights from the fetal perspective

26. The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

27. Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

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

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

31. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

32. Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.

35. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

36. Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy

38. Genetic architecture of primary congenital hydrocephalus

39. Prenatal Diagnosis of Primrose Syndrome.

40. Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering

41. Morphological and genetic causes of fetal cardiomyopathies

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

43. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

44. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

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

46. Two novel variations p.( Ser1275Thr ) and p.( Ser1275Arg ) inFLT4causing prenatal hereditary lymphedema type 1

48. Loss-of-function variants in ZEB1cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

49. Expanding the phenotypic spectrum of LIG4pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct

50. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect

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