The p63 gene in EEC and other syndromes

Bằng Brunner, H, Hamel, B, van Bokhoven, H
Được phát hành 2002

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

Bằng Barrow, L, van Bokhoven, H, Daack-Hirsch, S, Andersen, T, van Beersum, S E C, Gorlin, R, Murray, J
Được phát hành 2002

MicroRNA networks direct neuronal development and plasticity

Bằng Olde Loohuis, N. F. M., Kos, A., Martens, G. J. M., Van Bokhoven, H., Nadif Kasri, N., Aschrafi, A.
Được phát hành 2011

Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus

Bằng Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R
Xuất bản năm Transl Psychiatry (2016)

Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus

Bằng Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R
Xuất bản năm Transl Psychiatry (2015)

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome

Bằng BONGERS, E., VAN BOKHOVEN, H., VAN THIENEN, M.-N., KOOYMAN, M., VAN BEERSUM, S. E C, BOETES, C., KNOERS, N., HAMEL, B.
Được phát hành 2001

ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis

Bằng Shalom-Feuerstein, R, Lena, A M, Zhou, H, De La Forest Divonne, S, Van Bokhoven, H, Candi, E, Melino, G, Aberdam, D
Được phát hành 2011

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Bằng Phan, M., Conte, F., Khandelwal, K. D., Ockeloen, C. W., Bartzela, T., Kleefstra, T., van Bokhoven, H., Rubini, M., Zhou, H., Carels, C. E. L.
Xuất bản năm Hum Genet (2016)

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation

Bằng Veltman, J, Yntema, H, Lugtenberg, D, Arts, H, Briault, S, Huys, E, Osoegawa, K, de Jong, P, Brunner, H, v Geurts, van Bokhoven, H, Schoenmakers, E
Được phát hành 2004

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10

Bằng van der Zwaag, B, Verzijl, H, d Beltran-Valero, Schuster, V, van Bokhoven, H, Kremer, H, van Reen, M, Wichers, G, Brunner, H, Padberg, G
Được phát hành 2002

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

Bằng Yntema, H G, Hamel, B C, Smits, A P, van Roosmalen, T, van den Helm, B, Kremer, H, Ropers, H H, Smeets, D F, van Bokhoven, H
Được phát hành 1998

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

Bằng d Beltran-Valero, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H
Được phát hành 2003

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Bằng d Beltran-Valero, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W, Brunner, H, van Bokhoven, H, Brockington, M, Muntoni, F
Được phát hành 2004

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

Bằng Kleefstra, T, Yntema, H, Oudakker, A, Banning, M, Kalscheuer, V, Chelly, J, Moraine, C, Ropers, H, Fryns, J, Janssen, I, Sistermans, E, Nillesen, W, de Vries, L B A, Hamel, B, van Bokhoven, H
Được phát hành 2004

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Bằng Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh, T, van Bokhoven, H, Fryns, J, Chelly, J, Ropers, H, Moraine, C, Hamel, B, Briault, S
Được phát hành 2005

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Bằng van Bokhoven, H, Jung, M, Smits, A P, van Beersum, S, Rüschendorf, F, van Steensel, M, Veenstra, M, Tuerlings, J H, Mariman, E C, Brunner, H G, Wienker, T F, Reis, A, Ropers, H H, Hamel, B C
Được phát hành 1999

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Bằng van Reeuwijk, J, Janssen, M, van den Elzen, C, d Beltran-Valero, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M, Verrips, A, Walsh, C, Barth, P, Brunner, H, van Bokhoven, H
Được phát hành 2005

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Bằng Kleefstra, T, Smidt, M, Banning, M, Oudakker, A, Van Esch, H, de Brouwer, A P M, Nillesen, W, Sistermans, E, Hamel, B, de Bruijn, D, Fryns, J, Yntema, H, Brunner, H, de Vries, B B A, van Bokhoven, H
Được phát hành 2005

Periventricular Heterotopia in Common Microdeletion Syndromes

Bằng van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.P., Robertson, S.P.
Được phát hành 2010

Elevated microRNA-181c and microRNA-30d levels in the enlarged amygdala of the valproic acid rat model of autism

Bằng Olde Loohuis, N.F.M., Kole, K., Glennon, J.C., Karel, P., Van der Borg, G., Van Gemert, Y., Van den Bosch, D., Meinhardt, J., Kos, A., Shahabipour, F., Tiesinga, P., van Bokhoven, H., Martens, G.J.M., Kaplan, B.B., Homberg, J.R., Aschrafi, A.
Xuất bản năm Neurobiol Dis (2015)