Results
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. [electronic resource] by
- Faivre, L
- Collod-Beroud, G
- Child, A
- Callewaert, B
- Loeys, B L
- Binquet, C
- Gautier, E
- Arbustini, E
- Mayer, K
- Arslan-Kirchner, M
- Stheneur, C
- Kiotsekoglou, A
- Comeglio, P
- Marziliano, N
- Halliday, D
- Beroud, C
- Bonithon-Kopp, C
- Claustres, M
- Plauchu, H
- Robinson, P N
- Adès, L
- De Backer, J
- Coucke, P
- Francke, U
- De Paepe, A
- Boileau, C
- Jondeau, G
Producer: 20080811
In:
Journal of medical genetics vol. 45
Availability: No items available.
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3.
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Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. [electronic resource] by
- Faivre, L
- Collod-Beroud, G
- Callewaert, B
- Child, A
- Loeys, B L
- Binquet, C
- Gautier, E
- Arbustini, E
- Mayer, K
- Arslan-Kirchner, M
- Kiotsekoglou, A
- Comeglio, P
- Grasso, M
- Beroud, C
- Bonithon-Kopp, C
- Claustres, M
- Stheneur, C
- Bouchot, O
- Wolf, J E
- Robinson, P N
- Adès, L
- De Backer, J
- Coucke, P
- Francke, U
- De Paepe, A
- Boileau, C
- Jondeau, G
Producer: 20090618
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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4.
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. [electronic resource] by
- Faivre, L
- Collod-Beroud, G
- Callewaert, B
- Child, A
- Binquet, C
- Gautier, E
- Loeys, B L
- Arbustini, E
- Mayer, K
- Arslan-Kirchner, M
- Stheneur, C
- Kiotsekoglou, A
- Comeglio, P
- Marziliano, N
- Wolf, J E
- Bouchot, O
- Khau-Van-Kien, P
- Beroud, C
- Claustres, M
- Bonithon-Kopp, C
- Robinson, P N
- Adès, L
- De Backer, J
- Coucke, P
- Francke, U
- De Paepe, A
- Jondeau, G
- Boileau, C
Producer: 20090508
In:
European journal of human genetics : EJHG vol. 17
Availability: No items available.
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5.
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Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. [electronic resource] by
- Faivre, L
- Collod-Beroud, G
- Loeys, B L
- Child, A
- Binquet, C
- Gautier, E
- Callewaert, B
- Arbustini, E
- Mayer, K
- Arslan-Kirchner, M
- Kiotsekoglou, A
- Comeglio, P
- Marziliano, N
- Dietz, H C
- Halliday, D
- Beroud, C
- Bonithon-Kopp, C
- Claustres, M
- Muti, C
- Plauchu, H
- Robinson, P N
- Adès, L C
- Biggin, A
- Benetts, B
- Brett, M
- Holman, K J
- De Backer, J
- Coucke, P
- Francke, U
- De Paepe, A
- Jondeau, G
- Boileau, C
Producer: 20071004
In:
American journal of human genetics vol. 81
Availability: No items available.
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