Results
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A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. [electronic resource] by
- Kittles, R A
- Baffoe-Bonnie, A B
- Moses, T Y
- Robbins, C M
- Ahaghotu, C
- Huusko, P
- Pettaway, C
- Vijayakumar, S
- Bennett, J
- Hoke, G
- Mason, T
- Weinrich, S
- Trent, J M
- Collins, F S
- Mousses, S
- Bailey-Wilson, J
- Furbert-Harris, P
- Dunston, G
- Powell, I J
- Carpten, J D
Producer: 20060630
In:
Journal of medical genetics vol. 43
Availability: No items available.
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3072.
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Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. [electronic resource] by
- Lehtokari, Vilma-Lotta
- Pelin, Katarina
- Sandbacka, Maria
- Ranta, Salla
- Donner, Kati
- Muntoni, Francesco
- Sewry, Caroline
- Angelini, Corrado
- Bushby, Kate
- Van den Bergh, Peter
- Iannaccone, Susan
- Laing, Nigel G
- Wallgren-Pettersson, Carina
Producer: 20061024
In:
Human mutation vol. 27
Availability: No items available.
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3073.
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Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. [electronic resource] by
- Jansen, Jurgen
- Friesema, Edith C H
- Kester, Monique H A
- Milici, Carmelina
- Reeser, Maarten
- Grüters, Annette
- Barrett, Timothy G
- Mancilla, Edna E
- Svensson, Johan
- Wemeau, Jean-Louis
- Busi da Silva Canalli, Maria Heloisa
- Lundgren, Johan
- McEntagart, Meriel E
- Hopper, Neil
- Arts, Willem Frans
- Visser, Theo J
Producer: 20070718
In:
The Journal of clinical endocrinology and metabolism vol. 92
Availability: No items available.
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3074.
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Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. [electronic resource] by
- Mellersh, C S
- Boursnell, M E G
- Pettitt, L
- Ryder, E J
- Holmes, N G
- Grafham, D
- Forman, O P
- Sampson, J
- Barnett, K C
- Blanton, S
- Binns, M M
- Vaudin, M
Producer: 20061031
In:
Genomics vol. 88
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3075.
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3076.
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3077.
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Germinal mosaicism of GATA3 in a family with HDR syndrome. [electronic resource] by
- Sun, Yue
- Xia, Weibo
- Xing, Xiaoping
- Li, Mei
- Wang, Ou
- Jiang, Yan
- Pei, Yu
- Ye, Ping
- Liu, Huaicheng
- Hu, Yingying
- Meng, Xunwu
- Zhou, Xueying
Producer: 20090617
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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3078.
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MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. [electronic resource] by
- Müller, Thomas
- Hess, Michael W
- Schiefermeier, Natalia
- Pfaller, Kristian
- Ebner, Hannes L
- Heinz-Erian, Peter
- Ponstingl, Hannes
- Partsch, Joachim
- Röllinghoff, Barbara
- Köhler, Henrik
- Berger, Thomas
- Lenhartz, Henning
- Schlenck, Barbara
- Houwen, Roderick J
- Taylor, Christopher J
- Zoller, Heinz
- Lechner, Silvia
- Goulet, Olivier
- Utermann, Gerd
- Ruemmele, Frank M
- Huber, Lukas A
- Janecke, Andreas R
Producer: 20081030
In:
Nature genetics vol. 40
Availability: No items available.
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