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1.
Genetic assessment in primary hyperoxaluria: why it matters.
Pediatr Nephrol
; 38(3): 625-634, 2023 03.
Article
in English
| MEDLINE | ID: mdl-35695965
2.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34612517
3.
Positive trends in paediatric renal biopsy service provision in the UK: a national survey and re-audit of paediatric renal biopsy practice.
Pediatr Nephrol
; 31(4): 613-21, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26525201
4.
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Nat Rev Nephrol
; 19(3): 194-211, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36604599
5.
Treatment of primary hyperoxaluria type 1.
Clin Kidney J
; 15(Suppl 1): i9-i13, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35592620
6.
Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.
Kidney Int Rep
; 7(7): 1608-1618, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-35812297
7.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Clin J Am Soc Nephrol
; 17(1): 143-154, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34930753
8.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 29(8): 1186-1197, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33854215
9.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 32(1): 132, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-36721056
10.
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
BMC Res Notes
; 9: 325, 2016 Jun 27.
Article
in English
| MEDLINE | ID: mdl-27350610
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