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PubPharm (100)
1
Renal cystinuria and immune cells (T lymphocytes) dysfunction, what we know about?
enthalten in:
Nephron
| 2024
von
Caprio, F.
|
Orefice, G.
|
Secondulfo, F.
| +7
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2
Cyclosporin-induced hypertension is associated with the up-regulation of Na+-K+-2Cl- cotransporter (NKCC2)
enthalten in:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
| 2024
von
Capolongo, G.
|
Damiano, S.
|
Suzumoto, Y.
| +8
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3
Correction : Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Savige, J.
|
Storey, H.
|
Watson, E.
| +40
ErratumFor: Eur J Hum Genet. 2021 Aug;29(8):1186-1197. - PMID 33854215
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4
The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI
enthalten in:
Science translational medicine
| 2023
von
Trepiccione, F.
|
Iervolino, A.
|
D'Acierno, M.
| +17
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5
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies
enthalten in:
Genes
| 2023
von
Zacchia, M.
|
Capolongo, G.
|
Del Vecchio Blanco, F.
| +12
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6
miRNA-23a modulates sodium-hydrogen exchanger 1 expression : studies in medullary thick ascending limb of salt-induced hypertensive rats
enthalten in:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
| 2023
von
Lombari, P.
|
Mallardo, M.
|
Petrazzuolo, O.
| +12
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7
Bardet-Biedl Syndrome : Current Perspectives and Clinical Outlook
enthalten in:
Therapeutics and clinical risk management
| 2023
von
Melluso, A.
|
Secondulfo, F.
|
Capolongo, G.
| +2
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8
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells
enthalten in:
iScience
| 2022
von
Marchese, E.
|
Caterino, M.
|
Viggiano, D.
| +12
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9
Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
enthalten in:
ACS omega
| 2022
von
Gupta, N.
|
Khan, M.
|
Capasso, G.
| +1
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10
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak : data from the Campania Rare Disease Registry
enthalten in:
Journal of public health (Oxford, England)
| 2022
von
Limongelli, G.
|
Iucolano, S.
|
Monda, E.
| +120
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Journal of nephrology
8
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7
Nephrology, dialysis, transplantation : officia...
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Giornale italiano di nefrologia : organo uffici...
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10
Bardet-Biedl syndrome
5
9NEZ333N27
5
Alanine
5
Homocysteine
5
JO78O46X3K
5
NGS
5
OF5P57N2ZX
5
Proteomics
5
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5
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5
lanthionine
4
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4
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4
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4
BBS10 protein, human
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