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618 results on '"Antignac, Corinne"'

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1. Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence

3. Organoids, organs-on-chips, complex in vitro model: Definitions, applications, validation, ethics

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

5. A wave of deep intronic mutations in X-linked Alport syndrome

8. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

9. A slit-diaphragm-associated protein network for dynamic control of renal filtration

10. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

11. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

14. Bi-allelic mutations in renin-angiotensin system genes, associated with renal tubular dysgenesis, can also present as a progressive chronic kidney disease

18. Corrigendum: Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function

23. Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

28. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

29. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

30. Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

31. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

33. Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

35. Adeno-associated virus gene therapy prevents progression of kidney disease in genetic models of nephrotic syndrome.

38. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

39. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

40. Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing.

41. Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

48. Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

50. Evidence of digenic inheritance in Alport syndrome

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