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Your search keyword '"Attie-Bitach, Tania"' showing total 20 results

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

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

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

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

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

5. First reports of fetal SMARCC1 related hydrocephalus

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

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

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

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

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

14. PAX2 mutations in oligomeganephronia

15. Renal coloboma syndrome

17. Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome

18. Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

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