Results
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3221.
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3222.
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No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromas. [electronic resource] by
- Reijnders, Christianne M A
- Waaijer, Cathelijn J F
- Hamilton, Andrew
- Buddingh, Emilie P
- Dijkstra, Sander P D
- Ham, John
- Bakker, Egbert
- Szuhai, Karoly
- Karperien, Marcel
- Hogendoorn, Pancras C W
- Stringer, Sally E
- Bovée, Judith V M G
Producer: 20110311
In:
The American journal of pathology vol. 177
Availability: No items available.
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3223.
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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. [electronic resource] by
- Ciavarella, Michele
- Coco, Michelina
- Baorda, Filomena
- Stanziale, Pietro
- Chetta, Massimiliano
- Bisceglia, Luigi
- Palumbo, Pietro
- Bengala, Mario
- Raiteri, Paola
- Silengo, Margherita
- Caldarini, Camilla
- Facchini, Renato
- Lala, Roberto
- Cavaliere, Maria Luigia
- De Brasi, Davide
- Pasini, Barbara
- Zelante, Leopoldo
- Guarnieri, Vito
- D'Agruma, Leonardo
Producer: 20130326
In:
Gene vol. 515
Availability: No items available.
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3224.
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Genetic rescue of chondrodysplasia and the perinatal lethal effect of cartilage link protein deficiency. [electronic resource] by
- Czipri, Mátyás
- Otto, Jeffrey M
- Cs-Szabó, Gabriella
- Kamath, Rajesh V
- Vermes, Csaba
- Firneisz, Gábor
- Kolman, Kevin J
- Watanabe, Hideto
- Li, Yefu
- Roughley, Peter J
- Yamada, Yoshihiko
- Olsen, Björn R
- Glant, Tibor T
Producer: 20031106
In:
The Journal of biological chemistry vol. 278
Availability: No items available.
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3225.
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3226.
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3227.
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3228.
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Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. [electronic resource] by
- Yang, Wentian
- Wang, Jianguo
- Moore, Douglas C
- Liang, Haipei
- Dooner, Mark
- Wu, Qian
- Terek, Richard
- Chen, Qian
- Ehrlich, Michael G
- Quesenberry, Peter J
- Neel, Benjamin G
Producer: 20130813
In:
Nature vol. 499
Availability: No items available.
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3229.
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3230.
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3231.
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