Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
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Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure ; volume:3 ; number:1 ; day:1 ; month:3 ; year:2024 ; pages:1-8 ; date:12.2024
Journal of rare diseases ; 3, Heft 1 (1.3.2024), 1-8, 12.2024
- Classification
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Medizin, Gesundheit
- Creator
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Esson, Gavin
Logan, Ian
Wood, Katrina
Browning, Andrew C.
Sayer, John A.
- Contributor
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SpringerLink (Online service)
- DOI
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10.1007/s44162-024-00031-4
- URN
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urn:nbn:de:101:1-2404180708092.175409164063
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:50 AM CEST
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Esson, Gavin
- Logan, Ian
- Wood, Katrina
- Browning, Andrew C.
- Sayer, John A.
- SpringerLink (Online service)
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Clinical phenotypes of MAGEL2 mutations and deletions
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New CACNA1A deletions are associated to migraine phenotypes
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Life with one kidney
Clinical phenotypes of MAGEL2 mutations and deletions
Acute kidney injury in children with chronic kidney disease is associated with faster decline in kidney function
Optimal kidney exchange with immunosuppressants
Kidney-specific methylation patterns correlate with kidney function and are lost upon kidney disease progression
New CACNA1A deletions are associated to migraine phenotypes
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Diabetic kidney disease: the kidney disease relevant to individuals with diabetes
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