Results
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61.
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Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility. [electronic resource] by
- Preston, R S
- Philp, A
- Claessens, T
- Gijezen, L
- Dydensborg, A B
- Dunlop, E A
- Harper, K T
- Brinkhuizen, T
- Menko, F H
- Davies, D M
- Land, S C
- Pause, A
- Baar, K
- van Steensel, M A M
- Tee, A R
Producer: 20110517
In:
Oncogene vol. 30
Availability: No items available.
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62.
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Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. [electronic resource] by
- Klaassens, M
- Reinstein, E
- Hilhorst-Hofstee, Y
- Schrander, J J P
- Malfait, F
- Staal, H
- ten Have, L C
- Blaauw, J
- Roggeveen, H C J
- Krakow, D
- De Paepe, A
- van Steensel, M A M
- Pals, G
- Graham, J M
- Schrander-Stumpel, C T R M
Producer: 20121113
In:
Clinical genetics vol. 82
Availability: No items available.
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63.
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Increased epidermal expression and absence of mutations in CARD14 in a series of patients with sporadic pityriasis rubra pilaris. [electronic resource] by
- Eytan, O
- Qiaoli, L
- Nousbeck, J
- van Steensel, M A M
- Burger, B
- Hohl, D
- Taïeb, A
- Prey, S
- Bachmann, D
- Avitan-Hersh, E
- Jin Chung, H
- Shemer, A
- Trau, H
- Bergman, R
- Fuchs-Telem, D
- Warshauer, E
- Israeli, S
- Itin, P H
- Sarig, O
- Uitto, J
- Sprecher, E
Producer: 20150112
In:
The British journal of dermatology vol. 170
Availability: No items available.
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64.
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Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype. [electronic resource] by
- Volker-Touw, C M L
- de Koning, H D
- Giltay, J C
- de Kovel, C G F
- van Kempen, T S
- Oberndorff, K M E J
- Boes, M L
- van Steensel, M A M
- van Well, G T J
- Blokx, W A M
- Schalkwijk, J
- Simon, A
- Frenkel, J
- van Gijn, M E
Producer: 20171010
In:
The British journal of dermatology vol. 176
Availability: No items available.
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65.
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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. [electronic resource] by
- Smit, D L
- Mensenkamp, A R
- Badeloe, S
- Breuning, M H
- Simon, M E H
- van Spaendonck, K Y
- Aalfs, C M
- Post, J G
- Shanley, S
- Krapels, I P C
- Hoefsloot, L H
- van Moorselaar, R J A
- Starink, T M
- Bayley, J-P
- Frank, J
- van Steensel, M A M
- Menko, F H
Producer: 20110321
In:
Clinical genetics vol. 79
Availability: No items available.
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66.
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Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families. [electronic resource] by
- Houweling, A C
- Gijezen, L M
- Jonker, M A
- van Doorn, M B A
- Oldenburg, R A
- van Spaendonck-Zwarts, K Y
- Leter, E M
- van Os, T A
- van Grieken, N C T
- Jaspars, E H
- de Jong, M M
- Bongers, E M H F
- Johannesma, P C
- Postmus, P E
- van Moorselaar, R J A
- van Waesberghe, J-Htm
- Starink, T M
- van Steensel, M A M
- Gille, J J P
- Menko, F H
Producer: 20120119
In:
British journal of cancer vol. 105
Availability: No items available.
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