Results
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3061.
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3062.
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3063.
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3064.
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3065.
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3066.
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3067.
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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. [electronic resource] by
- Bowen, Margot E
- Boyden, Eric D
- Holm, Ingrid A
- Campos-Xavier, Belinda
- Bonafé, Luisa
- Superti-Furga, Andrea
- Ikegawa, Shiro
- Cormier-Daire, Valerie
- Bovée, Judith V
- Pansuriya, Twinkal C
- de Sousa, Sérgio B
- Savarirayan, Ravi
- Andreucci, Elena
- Vikkula, Miikka
- Garavelli, Livia
- Pottinger, Caroline
- Ogino, Toshihiko
- Sakai, Akinori
- Regazzoni, Bianca M
- Wuyts, Wim
- Sangiorgi, Luca
- Pedrini, Elena
- Zhu, Mei
- Kozakewich, Harry P
- Kasser, James R
- Seidman, Jon G
- Kurek, Kyle C
- Warman, Matthew L
Producer: 20110812
In:
PLoS genetics vol. 7
Availability: No items available.
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3068.
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3069.
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3070.
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3071.
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3072.
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3073.
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3074.
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3075.
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3076.
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Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene. [electronic resource] by
- Garofalo, S
- Vuorio, E
- Metsaranta, M
- Rosati, R
- Toman, D
- Vaughan, J
- Lozano, G
- Mayne, R
- Ellard, J
- Horton, W
Producer: 19911203
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 88
Availability: No items available.
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3077.
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3078.
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3079.
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3080.
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Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. [electronic resource] by
- Wakui, Keiko
- Gregato, Giuliana
- Ballif, Blake C
- Glotzbach, Caron D
- Bailey, Kristen A
- Kuo, Pao-Lin
- Sue, Whui-Chen
- Sheffield, Leslie J
- Irons, Mira
- Gomez, Enrique G
- Hecht, Jacqueline T
- Potocki, Lorraine
- Shaffer, Lisa G
Producer: 20050816
In:
European journal of human genetics : EJHG vol. 13
Availability: No items available.
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