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Author/Creator Chance, P F

1. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. Issue 4 (9th September 2005)

Authors:
Parisi, M A; Doherty, D; Eckert, M L; Shaw, D W W; Ozyurek, H; Aysun, S; Giray, O; Al Swaid, A; Al Shahwan, S; Dohayan, N; Bakhsh, E; Indridason, O S; Dobyns, W B; Bennett, C L; Chance, P F; Glass, I A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 4(2006)
Page Start:
334
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Issue 1 (1st July 2009)

Authors:
Doherty, D; Parisi, M A; Finn, L S; Gunay-Aygun, M; Al-Mateen, M; Bates, D; Clericuzio, C; Demir, H; Dorschner, M; van Essen, A J; Gahl, W A; Gentile, M; Gorden, N T; Hikida, A; Knutzen, D; Özyurek, H; Phelps, I; Rosenthal, P; Verloes, A; Weigand, H
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 1(2010)
Page Start:
8
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy. Issue 9 (25th November 2009)

Authors:
Collie, A M B; Landsverk, M L; Ruzzo, E; Mefford, H C; Buysse, K; Adkins, J R; Knutzen, D M; Barnett, K; Brown, R H; Parry, G J; Yum, S W; Simpson, D A; Olney, R K; Chinnery, P F; Eichler, E E; Chance, P F; Hannibal, M C
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 9(2010)
Page Start:
601
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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