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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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6.
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Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. [electronic resource] by
- McMichael, G
- Bainbridge, M N
- Haan, E
- Corbett, M
- Gardner, A
- Thompson, S
- van Bon, B W M
- van Eyk, C L
- Broadbent, J
- Reynolds, C
- O'Callaghan, M E
- Nguyen, L S
- Adelson, D L
- Russo, R
- Jhangiani, S
- Doddapaneni, H
- Muzny, D M
- Gibbs, R A
- Gecz, J
- MacLennan, A H
Producer: 20160302
In:
Molecular psychiatry vol. 20
Availability: No items available.
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7.
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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. [electronic resource] by
- van Bon, B W M
- Coe, B P
- Bernier, R
- Green, C
- Gerdts, J
- Witherspoon, K
- Kleefstra, T
- Willemsen, M H
- Kumar, R
- Bosco, P
- Fichera, M
- Li, D
- Amaral, D
- Cristofoli, F
- Peeters, H
- Haan, E
- Romano, C
- Mefford, H C
- Scheffer, I
- Gecz, J
- de Vries, B B A
- Eichler, E E
Producer: 20160916
In:
Molecular psychiatry vol. 21
Availability: No items available.
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Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. [electronic resource] by
- Wincent, J
- Bruno, D L
- van Bon, B W M
- Bremer, A
- Stewart, H
- Bongers, E M H F
- Ockeloen, C W
- Willemsen, M H
- Keays, D D A
- Baird, G
- Newbury, D F
- Kleefstra, T
- Marcelis, C
- Kini, U
- Stark, Z
- Savarirayan, R
- Sheffield, L J
- Zuffardi, O
- Slater, H R
- de Vries, B B
- Knight, S J L
- Anderlid, B-M
- Schoumans, J
Publication details: Molecular syndromology 2010
In:
Molecular syndromology vol. 1
Availability: No items available.
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9.
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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. [electronic resource] by
- van Bon, B W M
- Koolen, D A
- Borgatti, R
- Magee, A
- Garcia-Minaur, S
- Rooms, L
- Reardon, W
- Zollino, M
- Bonaglia, M C
- De Gregori, M
- Novara, F
- Grasso, R
- Ciccone, R
- van Duyvenvoorde, H A
- Aalbers, A M
- Guerrini, R
- Fazzi, E
- Nillesen, W M
- McCullough, S
- Kant, S G
- Marcelis, C L
- Pfundt, R
- de Leeuw, N
- Smeets, D
- Sistermans, E A
- Wit, J M
- Hamel, B C
- Brunner, H G
- Kooy, F
- Zuffardi, O
- de Vries, B B A
Producer: 20080811
In:
Journal of medical genetics vol. 45
Availability: No items available.
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10.
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. [electronic resource] by
- van Bon, B W M
- Mefford, H C
- Menten, B
- Koolen, D A
- Sharp, A J
- Nillesen, W M
- Innis, J W
- de Ravel, T J L
- Mercer, C L
- Fichera, M
- Stewart, H
- Connell, L E
- Ounap, K
- Lachlan, K
- Castle, B
- Van der Aa, N
- van Ravenswaaij, C
- Nobrega, M A
- Serra-Juhé, C
- Simonic, I
- de Leeuw, N
- Pfundt, R
- Bongers, E M
- Baker, C
- Finnemore, P
- Huang, S
- Maloney, V K
- Crolla, J A
- van Kalmthout, M
- Elia, M
- Vandeweyer, G
- Fryns, J P
- Janssens, S
- Foulds, N
- Reitano, S
- Smith, K
- Parkel, S
- Loeys, B
- Woods, C G
- Oostra, A
- Speleman, F
- Pereira, A C
- Kurg, A
- Willatt, L
- Knight, S J L
- Vermeesch, J R
- Romano, C
- Barber, J C
- Mortier, G
- Pérez-Jurado, L A
- Kooy, F
- Brunner, H G
- Eichler, E E
- Kleefstra, T
- de Vries, B B A
Producer: 20091102
In:
Journal of medical genetics vol. 46
Availability: No items available.
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