Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

Por Halley, D, Heukels-Dully, M J
Publicado em 1977

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

Por d'Azzo, A., Halley, D. J. J., Hoogeveen, A., Galjaard, H.
Publicado em 1980

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

Por Janssen, L A, Sandkuijl, L A, Sampson, J R, Halley, D J
Publicado em 1992

The fragile X syndrome.

Por de Vries, B B, Halley, D J, Oostra, B A, Niermeijer, M F
Publicado em 1998

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

Por LAAN, L, VAN DEN OUWELAND, A M W, BAKKER, P, HALLEY, D, CATSMAN-BERREVOET..., C
Publicado em 1999

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

Por Halley, D J, Winchester, B G, Burditt, L J, d'Azzo, A, Robinson, D, Galjaard, H
Publicado em 1980

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

Por Boehmer, A L, Brinkmann, A O, Niermeijer, M F, Bakker, L, Halley, D J, Drop, S L
Publicado em 1997

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

Por de Vries, B B A, Severijnen, L, Jacobs, A, Olmer, R, Halley, D, Oostra, B, Willemsen, R
Publicado em 2003

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

Por Veeze, H J, Halley, D J, Bijman, J, de Jongste, J C, de Jonge, H R, Sinaasappel, M
Publicado em 1994

Studies on the pathogenesis of Costello syndrome

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

Fragile X syndrome: of POF and premutations

Por MACPHERSON, J., MURRAY, A., WEBB, J., JACOBS, P., DE VRIES, B. B A, HALLEY, D., OOSTRA, B., NIERMEIJER, M.
Publicado em 1999

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

Por de Wit, M. C. Y., de Coo, I. F. M., Halley, D. J. J., Lequin, M. H., Mancini, G. M. S.
Publicado em 2009

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

Por van Rijn, M A, de Vries, B B, Tibben, A, van den Ouweland, A M, Halley, D J, Niermeijer, M F
Publicado em 1997

Recombinations between IRP and cystic fibrosis.

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

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

Por 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.
Publicado em 1999

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

Por 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
Publicado em 1998

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

Por 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.
Publicado em 2012

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

Por 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
Publicado em 1997

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

Por 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
Publicado em 1993

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

Por 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
Publicado em 1998