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Author/Creator Hildebrandt, F

2. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). Issue 10 (8th June 2009)

Authors:
Otto, E A; Tory, K; Attanasio, M; Zhou, W; Chaki, M; Paruchuri, Y; Wise, E L; Wolf, M T F; Utsch, B; Becker, C; Nürnberg, G; Nürnberg, P; Nayir, A; Saunier, S; Antignac, C; Hildebrandt, F
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 10(2009)
Page Start:
663
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. Issue 4 (24th September 2009)

Authors:
Harville, H M; Held, S; Diaz-Font, A; Davis, E E; Diplas, B H; Lewis, R A; Borochowitz, Z U; Zhou, W; Chaki, M; MacDonald, J; Kayserili, H; Beales, P L; Katsanis, N; Otto, E; Hildebrandt, F
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 4(2010)
Page Start:
262
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy. Issue 1 (December 2015)

Authors:
Perrault, I; Halbritter, J; Porath, J; Gerard, X; Braun, D; Gee, H; Fathy, H; Saunier, S; Cormier-Daire, V; Thomas, S; Attié-Bitach, T; Boddaert, N; Taschner, M; Schueler, M; Lorentzen, E; Lifton, R; Otto, E; Bastin, P; Kaplan, J; Hildebrandt, F
Journal:
Cilia
Issue:
Volume 4:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome. (9th July 2013)

Authors:
Coussa, R G; Otto, E A; Gee, H‐Y; Arthurs, P; Ren, H; Lopez, I; Keser, V; Fu, Q; Faingold, R; Khan, A; Schwartzentruber, J; Majewski, J; Hildebrandt, F; Koenekoop, R K
Journal:
Clinical genetics
Issue:
Volume 84:Number 2(2013:Aug.)
Page Start:
150
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗