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1.
The importance of clinician, patient and researcher collaborations in Alport syndrome.
Pediatr Nephrol
; 35(5): 733-742, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31044288
2.
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Nephrol Dial Transplant
; 32(6): 916-924, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-27190345
3.
The 2014International Workshop on Alport Syndrome.
Kidney Int
; 86(4): 679-84, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24988067
4.
Explaining Alport syndrome-lessons from the adult nephrology clinic.
J Rare Dis (Berlin)
; 3(1): 14, 2024.
Article
in English
| MEDLINE | ID: mdl-38745975
5.
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Genes (Basel)
; 14(9)2023 08 25.
Article
in English
| MEDLINE | ID: mdl-37761826
6.
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
7.
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
8.
Correction: The 2019 and 2021 International workshops on Alport syndrome.
Eur J Hum Genet
; 32(1): 130, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-36690832
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.
The 2019 and 2021 International Workshops on Alport Syndrome.
Eur J Hum Genet
; 30(5): 507-516, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35260866
11.
Alport Syndrome in Women and Girls.
Clin J Am Soc Nephrol
; 11(9): 1713-1720, 2016 09 07.
Article
in English
| MEDLINE | ID: mdl-27287265
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