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European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities. [electronic resource] by
- Feenstra, I
- Fang, J
- Koolen, D A
- Siezen, A
- Evans, C
- Winter, R M
- Lees, M M
- Riegel, M
- de Vries, B B A
- Van Ravenswaaij, C M A
- Schinzel, A
Producer: 20060928
In:
European journal of medical genetics vol. 49
Availability: No items available.
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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). [electronic resource] by
- Koolen, D A
- Nillesen, W M
- Versteeg, M H A
- Merkx, G F M
- Knoers, N V A M
- Kets, M
- Vermeer, S
- van Ravenswaaij, C M A
- de Kovel, C G
- Brunner, H G
- Smeets, D
- de Vries, B B A
- Sistermans, E A
Producer: 20051019
In:
Journal of medical genetics vol. 41
Availability: No items available.
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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. [electronic resource] by
- Jongmans, M C J
- Admiraal, R J
- van der Donk, K P
- Vissers, L E L M
- Baas, A F
- Kapusta, L
- van Hagen, J M
- Donnai, D
- de Ravel, T J
- Veltman, J A
- Geurts van Kessel, A
- De Vries, B B A
- Brunner, H G
- Hoefsloot, L H
- van Ravenswaaij, C M A
Producer: 20060616
In:
Journal of medical genetics vol. 43
Availability: No items available.
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