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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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10.
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Pure subtelomeric microduplications as a cause of mental retardation. [electronic resource] by
- Ruiter, E M
- Koolen, D A
- Kleefstra, T
- Nillesen, W M
- Pfundt, R
- de Leeuw, N
- Hamel, B C J
- Brunner, H G
- Sistermans, E A
- de Vries, B B A
Producer: 20071107
In:
Clinical genetics vol. 72
Availability: No items available.
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11.
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Clinical and genetic heterogeneity in benign hereditary chorea. [electronic resource] by
- Breedveld, G J
- Percy, A K
- MacDonald, M E
- de Vries, B B A
- Yapijakis, C
- Dure, L S
- Ippel, E F
- Sandkuijl, L A
- Heutink, P
- Arts, W F M
Producer: 20020920
In:
Neurology vol. 59
Availability: No items available.
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12.
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De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. [electronic resource] by
- Jansen, S
- Kleefstra, T
- Willemsen, M H
- de Vries, P
- Pfundt, R
- Hehir-Kwa, J Y
- Gilissen, C
- Veltman, J A
- de Vries, B B A
- Vissers, L E L M
Producer: 20170630
In:
Clinical genetics vol. 90
Availability: No items available.
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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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A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. [electronic resource] by
- Day, R
- Beckett, B
- Donnai, D
- Fryer, A
- Heidenblad, M
- Howard, P
- Kerr, B
- Mansour, S
- Maye, U
- McKee, S
- Mohammed, S
- Sweeney, E
- Tassabehji, M
- de Vries, B B A
- Clayton-Smith, J
Producer: 20081215
In:
Clinical genetics vol. 74
Availability: No items available.
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16.
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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. [electronic resource] by
- van Bon, B W M
- Hoischen, A
- Hehir-Kwa, J
- de Brouwer, A P M
- Ruivenkamp, C
- Gijsbers, A C J
- Marcelis, C L
- de Leeuw, N
- Veltman, J A
- Brunner, H G
- de Vries, B B A
Producer: 20110524
In:
Clinical genetics vol. 79
Availability: No items available.
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17.
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Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). [electronic resource] by
- Kleefstra, T
- Franken, C E
- Arens, Y H J M
- Ramakers, G J A
- Yntema, H G
- Sistermans, E A
- Hulsmans, C F C H
- Nillesen, W N
- van Bokhoven, H
- de Vries, B B A
- Hamel, B C J
Producer: 20050208
In:
Clinical genetics vol. 66
Availability: No items available.
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18.
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The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations. [electronic resource] by
- Turner, G
- Lower, K M
- White, S M
- Delatycki, M
- Lampe, A K
- Wright, M
- Smith, J Clayton
- Kerr, B
- Schelley, S
- Hoyme, H E
- De Vries, B B A
- Kleefstra, T
- Grompe, M
- Cox, B
- Gecz, J
- Partington, M
Producer: 20041122
In:
Clinical genetics vol. 65
Availability: No items available.
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19.
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies. [electronic resource] by
- Vissers, L E L M
- Stankiewicz, P
- Yatsenko, S A
- Crawford, E
- Creswick, H
- Proud, V K
- de Vries, B B A
- Pfundt, R
- Marcelis, C L M
- Zackowski, J
- Bi, W
- van Kessel, A Geurts
- Lupski, J R
- Veltman, J A
Producer: 20070926
In:
Human genetics vol. 121
Availability: No items available.
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20.
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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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