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Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. [electronic resource] by
- Cullinane, Andrew R
- Vilboux, Thierry
- O'Brien, Kevin
- Curry, James A
- Maynard, Dawn M
- Carlson-Donohoe, Hannah
- Ciccone, Carla
- Markello, Thomas C
- Gunay-Aygun, Meral
- Huizing, Marjan
- Gahl, William A
Producer: 20111123
In:
The Journal of investigative dermatology vol. 131
Availability: No items available.
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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. [electronic resource] by
- Stephen, Joshi
- Vilboux, Thierry
- Mian, Luhe
- Kuptanon, Chulaluck
- Sinclair, Courtney M
- Yildirimli, Deniz
- Maynard, Dawn M
- Bryant, Joy
- Fischer, Roxanne
- Vemulapalli, Meghana
- Mullikin, James C
- Huizing, Marjan
- Gahl, William A
- Malicdan, May Christine V
- Gunay-Aygun, Meral
Producer: 20170620
In:
Human genetics vol. 136
Availability: No items available.
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