Carrier detection of Batten disease (Juvenile neuronal ceroid‐lipofuscinosis)

Neuronal ceroid-lipofuscinoses in childhood

1988 • 302 citations

Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16

1992 • 93 citations

Batten disease (Spielmeyer‐Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

1989 • 90 citations

Genetic Metabolic Diseases

2022 • 60 citations

Introduction to Risk Calculation in Genetic Counselling

1991 • 54 citations

Dinucleotide repeat polymorphism at the D16S288 locus

1991 • 51 citations

Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci

1993 • 47 citations

Report of the committee on the genetic constitution of chromosome 16

1990 • 39 citations

First‐trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi

1989 • 33 citations

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

1994 • 33 citations

Report of the committee on the genetic constitution of chromosome 6

1991 • 25 citations

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

1990 • 22 citations

Diagnosis of Neuronal Ceroid Lipofuscinosis by Ultrastructural Examination of Peripheral Blood Lymphocytes

1987 • 17 citations

Report of the committee on the genetic constitution of chromosome 16

1991 • 16 citations

Probable exclusion of juvenile neuronal ceroid lipofuscinosis in a fetus at risk: An interim report

1989 • 13 citations

Unusual variability of the complex dinucleotide repeat block at the SPN locus

1992 • 10 citations

Neuronal ceroid lipofuscinosis in The Netherlands-II

1983 • 7 citations