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A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. [electronic resource] by
- de Leeuw, N
- Pfundt, R
- Koolen, D A
- Neefs, I
- Scheltinga, I
- Mieloo, H
- Sistermans, E A
- Nillesen, W
- Smeets, D F
- de Vries, B B A
- Knoers, N V A M
Producer: 20080312
In:
Journal of medical genetics vol. 45
Availability: No items available.
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Congenital myopathy caused by a novel missense mutation in the CFL2 gene. [electronic resource] by
- Ockeloen, C W
- Gilhuis, H J
- Pfundt, R
- Kamsteeg, E J
- Agrawal, P B
- Beggs, A H
- Dara Hama-Amin, A
- Diekstra, A
- Knoers, N V A M
- Lammens, M
- van Alfen, N
Producer: 20121113
In:
Neuromuscular disorders : NMD vol. 22
Availability: No items available.
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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis. [electronic resource] by
- van de Warrenburg, B P C
- Sinke, R J
- Verschuuren-Bemelmans, C C
- Scheffer, H
- Brunt, E R
- Ippel, P F
- Maat-Kievit, J A
- Dooijes, D
- Notermans, N C
- Lindhout, D
- Knoers, N V A M
- Kremer, H P H
Producer: 20020419
In:
Neurology vol. 58
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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