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Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. [electronic resource] by
- Prokudin, Ivan
- Simons, Cas
- Grigg, John R
- Storen, Rebecca
- Kumar, Vikrant
- Phua, Zai Y
- Smith, James
- Flaherty, Maree
- Davila, Sonia
- Jamieson, Robyn V
Producer: 20150212
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. [electronic resource] by
- Sharma, Shiwani
- Burdon, Kathryn P
- Dave, Alpana
- Jamieson, Robyn V
- Yaron, Yuval
- Billson, Frank
- Van Maldergem, Lionel
- Lorenz, Birgit
- Gécz, Jozef
- Craig, Jamie E
Producer: 20081216
In:
Molecular vision vol. 14
Availability: No items available.
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Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. [electronic resource] by
- Nolen, Leisha D
- Amor, David
- Haywood, Ashley
- St Heaps, Luke
- Willcock, Chris
- Mihelec, Marija
- Tam, Patrick
- Billson, Frank
- Grigg, John
- Peters, Greg
- Jamieson, Robyn V
Producer: 20060928
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. [electronic resource] by
- Jamieson, Robyn V
- Perveen, Rahat
- Kerr, Bronwyn
- Carette, Martin
- Yardley, Jill
- Heon, Elise
- Wirth, M Gabriela
- van Heyningen, Veronica
- Donnai, Di
- Munier, Francis
- Black, Graeme C M
Producer: 20020319
In:
Human molecular genetics vol. 11
Availability: No items available.
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