Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

von Halley, D, Heukels-Dully, M J
Veröffentlicht 1977

Correction of I-cell defect by hybridization with lysosomal enzyme deficient human fibroblasts

von d'Azzo, A., Halley, D. J. J., Hoogeveen, A., Galjaard, H.
Veröffentlicht 1980

Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data.

von Janssen, L A, Sandkuijl, L A, Sampson, J R, Halley, D J
Veröffentlicht 1992

The fragile X syndrome.

von de Vries, B B, Halley, D J, Oostra, B A, Niermeijer, M F
Veröffentlicht 1998

Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene

von LAAN, L, VAN DEN OUWELAND, A M W, BAKKER, P, HALLEY, D, CATSMAN-BERREVOET..., C
Veröffentlicht 1999

Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controls.

von Halley, D J, Winchester, B G, Burditt, L J, d'Azzo, A, Robinson, D, Galjaard, H
Veröffentlicht 1980

Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.

von Boehmer, A L, Brinkmann, A O, Niermeijer, M F, Bakker, L, Halley, D J, Drop, S L
Veröffentlicht 1997

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

von de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
Veröffentlicht 2003

Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.

von Veeze, H J, Halley, D J, Bijman, J, de Jongste, J C, de Jonge, H R, Sinaasappel, M
Veröffentlicht 1994

Studies on the pathogenesis of Costello syndrome

von Mancini, G, van Diggelen, O P, Kleijer, W, Di, R, Farina, V, Yuksel-Apak, M, Kayserili, H, Halley, D
Veröffentlicht 2003

Fragile X syndrome: of POF and premutations

von MACPHERSON, J., MURRAY, A., WEBB, J., JACOBS, P., DE VRIES, B. B A, HALLEY, D., OOSTRA, B., NIERMEIJER, M.
Veröffentlicht 1999

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

von de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.
Veröffentlicht 2009

DNA testing for fragile X syndrome: implications for parents and family.

von van Rijn, M A, de Vries, B B, Tibben, A, van den Ouweland, A M, Halley, D J, Niermeijer, M F
Veröffentlicht 1997

Recombinations between IRP and cystic fibrosis.

von Farrall, M, Wainwright, B J, Feldman, G L, Beaudet, A, Sretenovic, Z, Halley, D, Simon, M, Dickerman, L, Devoto, M, Romeo, G
Veröffentlicht 1988

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

von van Slegtenhorst, M., Verhoef, S., Tempelaars, A., Bakker, L., Wang, Q., Wessels, M., Bakker, R., Nellist, M., Lindhout, D., Halley, D., van den Ouweland, A.
Veröffentlicht 1999

Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family.

von Verhoef, S, Schrander-Stumpel, C T, Vuzevski, V D, Tempelaars, A, Jansen, L A, Malfeyt, G A, Ceelen, T L, Lindhout, D, Halley, D J, van den Ouweland, A M
Veröffentlicht 1998

Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process

von Langereis, E. J., van den Berg, I. E. T., Halley, D. J. J., Poorthuis, B. J. H. M., Vaz, F. M., Wokke, J. H. J., Linthorst, G. E.
Veröffentlicht 2012

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

von Losekoot, M, Hoogendoorn, E, Olmer, R, Jansen, C C, Oosterwijk, J C, van den Ouweland, A M, Halley, D J, Warren, S T, Willemsen, R, Oostra, B A, Bakker, E
Veröffentlicht 1997

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

von de Vries, B B, Fryns, J P, Butler, M G, Canziani, F, Wesby-van Swaay, E, van Hemel, J O, Oostra, B A, Halley, D J, Niermeijer, M F
Veröffentlicht 1993

A prospective 10 year follow up study of patients with neurofibromatosis type 1

von Cnossen, M, de Goede-Bolder, A, van den Broek, K M, Waasdorp, C, Oranje, A, Stroink, H, Simonsz, H, van den Ouweland, A M W, Halley, D, Niermeijer, M
Veröffentlicht 1998