Results
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3101.
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Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. [electronic resource] by
- Hiriyanna, K T
- Bingham, E L
- Yashar, B M
- Ayyagari, R
- Fishman, G
- Small, K W
- Weinberg, D V
- Weleber, R G
- Lewis, R A
- Andreasson, S
- Richards, J E
- Sieving, P A
Producer: 20000106
In:
Human mutation vol. 14
Availability: No items available.
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3102.
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3103.
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3104.
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Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. [electronic resource] by
- Ashton, Gabrielle H S
- McLean, W H Irwin
- South, Andrew P
- Oyama, Noritaka
- Smith, Frances J D
- Al-Suwaid, Raouf
- Al-Ismaily, Abla
- Atherton, David J
- Harwood, Catherine A
- Leigh, Irene M
- Moss, Celia
- Didona, Biagio
- Zambruno, Giovanna
- Patrizi, Annalisa
- Eady, Robin A J
- McGrath, John A
Producer: 20040304
In:
The Journal of investigative dermatology vol. 122
Availability: No items available.
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3105.
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3106.
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3107.
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3108.
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3109.
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Tbx2b is required for ultraviolet photoreceptor cell specification during zebrafish retinal development. [electronic resource] by
- Alvarez-Delfin, Karen
- Morris, Ann C
- Snelson, Corey D
- Gamse, Joshua T
- Gupta, Tripti
- Marlow, Florence L
- Mullins, Mary C
- Burgess, Harold A
- Granato, Michael
- Fadool, James M
Producer: 20090310
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 106
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3110.
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3111.
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3112.
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3113.
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3114.
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A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. [electronic resource] by
- Duriez, Bénédicte
- Duquesnoy, Philippe
- Escudier, Estelle
- Bridoux, Anne-Marie
- Escalier, Denise
- Rayet, Isabelle
- Marcos, Elisabeth
- Vojtek, Anne-Marie
- Bercher, Jean-François
- Amselem, Serge
Producer: 20070613
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 104
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3115.
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3116.
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FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. [electronic resource] by
- Kim, Jung-Wook
- Lee, Sook-Kyung
- Lee, Zang Hee
- Park, Joo-Cheol
- Lee, Kyung-Eun
- Lee, Myoung-Hwa
- Park, Jong-Tae
- Seo, Byoung-Moo
- Hu, Jan C-C
- Simmer, James P
Producer: 20080317
In:
American journal of human genetics vol. 82
Availability: No items available.
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3117.
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Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case-control study. [electronic resource] by
- Enomoto, Hisako
- Hirata, Kenji
- Otsuka, Kenta
- Kawai, Toshiharu
- Takahashi, Takenori
- Hirota, Tomomitsu
- Suzuki, Yoichi
- Tamari, Mayumi
- Otsuka, Fujio
- Fujieda, Shigeharu
- Arinami, Tadao
- Noguchi, Emiko
Producer: 20080910
In:
Journal of human genetics vol. 53
Availability: No items available.
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3118.
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Mutations in DMRT3 affect locomotion in horses and spinal circuit function in mice. [electronic resource] by
- Andersson, Lisa S
- Larhammar, Martin
- Memic, Fatima
- Wootz, Hanna
- Schwochow, Doreen
- Rubin, Carl-Johan
- Patra, Kalicharan
- Arnason, Thorvaldur
- Wellbring, Lisbeth
- Hjälm, Göran
- Imsland, Freyja
- Petersen, Jessica L
- McCue, Molly E
- Mickelson, James R
- Cothran, Gus
- Ahituv, Nadav
- Roepstorff, Lars
- Mikko, Sofia
- Vallstedt, Anna
- Lindgren, Gabriella
- Andersson, Leif
- Kullander, Klas
Producer: 20121011
In:
Nature vol. 488
Availability: No items available.
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3119.
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3120.
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