Journal of rare diseases (Berlin, Germany)

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Journal of rare diseases (Berlin, Germany) - 最新文献

Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.

Pub Date : 2024-01-01 DOI: 10.1007/s44162-024-00049-8 M Vasseghi, C Behan, A Connolly, D Cunningham, E Dempsey, C Flynn, M Galvin, G Griffin, P Moloney, M Murphy, Y Owen, S O'Malley, G O'Rourke, O O'Sullivan, C P Doherty

Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure.

Pub Date : 2024-01-01 DOI: 10.1007/s44162-024-00031-4 Gavin Esson, Ian Logan, Katrina Wood, Andrew C Browning, John A Sayer

Explaining Alport syndrome-lessons from the adult nephrology clinic.

Pub Date : 2024-01-01 DOI: 10.1007/s44162-024-00036-z Holly Mabillard, Rebecca Ryan, Nik Tzoumas, Susie Gear, John A Sayer

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