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PubPharm (41)
1
Clinical Significance of the Cystic Phenotype in Alport Syndrome
enthalten in:
American journal of kidney diseases : the official journal of the National Kidney Foundation
| 2024
von
Zeni, L.
|
Mescia, F.
|
Toso, D.
| +9
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2
Monoallelic pathogenic IFT140 variants are a common cause of autosomal dominant polycystic kidney disease-spectrum phenotype
enthalten in:
Clinical kidney journal
| 2024
von
Dordoni, C.
|
Zeni, L.
|
Toso, D.
| +8
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3
Rare single nucleotide and copy number variants and the etiology of congenital obstructive uropathy : implications for genetic diagnosis
enthalten in:
Journal of the American Society of Nephrology
| June 2023
von
Ahram, D.
|
Lim, T.
|
Ke, J.
| +79
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4
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy : Implications for Genetic Diagnosis
enthalten in:
Journal of the American Society of Nephrology : JASN
| 2023
von
Ahram, D.
|
Lim, T.
|
Ke, J.
| +79
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5
Lessons From the Clinic : ADPKD Genetic Test Unraveling Severe Phenotype, Intrafamilial Variability, and New, Rare Causing Genotype
enthalten in:
Kidney international reports
| 2022
von
Izzi, C.
|
Dordoni, C.
|
Delbarba, E.
| +8
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6
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
enthalten in:
Journal of nephrology
| 2022
von
Delbarba, E.
|
Econimo, L.
|
Dordoni, C.
| +6
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7
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
enthalten in:
Journal of nephrology / Supplement
| 2021
von
Delbarba, E.
|
Econimo, L.
|
Dordoni, C.
| +6
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8
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
enthalten in:
Journal of nephrology
| 2021
von
Delbarba, E.
|
Econimo, L.
|
Dordoni, C.
| +6
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9
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
enthalten in:
Journal of nephrology
| 2021
von
Delbarba, E.
|
Econimo, L.
|
Dordoni, C.
| +6
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10
Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease
enthalten in:
Kidney international reports
| 2020
von
Izzi, C.
|
Dordoni, C.
|
Econimo, L.
| +8
CommentIn: Kidney Int Rep. 2020 Oct 21;5(12):2133-2135. - PMID 33306044
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American journal of medical genetics. Part A
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Current opinion in allergy and clinical immunology
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10
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4
Autosomal dominant polycystic kidney disease
4
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next generation sequencing
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143011-72-7
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2
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2
Severe congenital neutropenia type 4
2
TRPP Cation Channels
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Erscheinungszeitraum
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