Skeletal dysplasias

Bằng Brook, C, de Vries, B B A
Được phát hành 1998

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

Bằng DE VRIES, B. B A, KNIGHT, S., HOMFRAY, T., SMITHSON, S., FLINT, J., WINTER, R.
Được phát hành 2001

Telomeres: a diagnosis at the end of the chromosomes

Bằng De Vries, B B A, Winter, R, Schinzel, A, van Ravenswaaij-A..., C
Được phát hành 2003

Dilemmas in counselling females with the fragile X syndrome

Bằng de Vries, B. B A, van den Boer-van, ... H. M A, Niermeijer, M., Tibben, A.
Được phát hành 1999

FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics

Bằng de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
Được phát hành 2003

Fragile X syndrome: of POF and premutations

Bằng MACPHERSON, J., MURRAY, A., WEBB, J., JACOBS, P., DE VRIES, B. B A, HALLEY, D., OOSTRA, B., NIERMEIJER, M.
Được phát hành 1999

A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome

Bằng Vulto-van Silfhout, A.T., de Brouwer, A.F.M., de Leeuw, N., Obihara, C.C., Brunner, H.G., de Vries, B.B.A.
Được phát hành 2012

Screening for the fragile X syndrome among the mentally retarded: a clinical study

Bằng de Vries, B. B A, Mohkamsing, S., van den Ouweland, A. M W, Mol, E., Gelsema, K., van Rijn, M., Tibben, A., Halley, D., Duivenvoorden, H., Oostra, B., Niermeijer, M.
Được phát hành 1999

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

Bằng de Vries, B B A, White, S, Knight, S, Regan, R, Homfray, T, Young, I, Super, M, McKeown, C, Splitt, M, Quarrell, O, Trainer, A, Niermeijer, M, Malcolm, S, Flint, J, Hurst, J, Winter, R
Được phát hành 2001

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Bằng Koolen, D, Nillesen, W, Versteeg, M, Merkx, G, Knoers, N, Kets, M, Vermeer, S, van Ravenswaaij, C M A, de Kovel, C G, Brunner, H, Smeets, D, de Vries, B B A, Sistermans, E
Được phát hành 2004

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

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

Bằng 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.
Được phát hành 2007

Chromosomal copy number changes in patients with non‐syndromic X linked mental retardation detected by array CGH

Bằng Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander‐Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G
Được phát hành 2006

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bằng 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, van Kessel, A Geurts, De Vries, B B A, Brunner, H G, Hoefsloot, L H, van Ravenswaaij, C M A
Được phát hành 2006

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Bằng Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Aa, N Van der, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A
Được phát hành 2008

Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome

Bằng 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., Õunap, 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.
Được phát hành 2009