Search

Author/Creator Topaloglu, R

1. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. Issue 2 (1st February 2003)

Authors:
Borthwick, K J; Kandemir, N; Topaloglu, R; Kornak, U; Bakkaloglu, A; Yordam, N; Ozen, S; Mocan, H; Shah, G N; Sly, W S; Karet, F E
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 2(2003)
Page Start:
115
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss. Issue 11 (1st November 2002)

Authors:
Stover, E H; Borthwick, K J; Bavalia, C; Eady, N; Fritz, D M; Rungroj, N; Giersch, A B S; Morton, C C; Axon, P R; Akil, I; Al-Sabban, E A; Baguley, D M; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, M-J; Guala, A; Hulton, S A; Kroes, H
Journal:
Journal of medical genetics
Issue:
Volume 39:Issue 11(2002)
Page Start:
796
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗