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Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2

Journal of clinical oncology, 1999-11, Vol.17 (11), p.3396-3402

1999

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Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins

Biochemical Society transactions, 2003-06, Vol.31 (Pt 3), p.587-591

2003

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A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Clinical genetics, 2014-04, Vol.85 (4), p.318-327

2014

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Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

Human reproduction (Oxford), 2002-01, Vol.17 (1), p.13-16

2002

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DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification

European journal of paediatric neurology, 2007, Vol.11, p.27-28

2007

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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

European journal of human genetics : EJHG, 2011-09, Vol.19 (9), p.1009-1012

2011

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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.157-163

2011

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Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

European journal of cancer (1990), 2001-11, Vol.37 (16), p.2082-2090

2001

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The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data

Human reproduction (Oxford), 1999-02, Vol.14 (2), p.371-374

1999

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Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

Tijdschrift voor kindergeneeskunde, 2010, Vol.78 (2), p.49-56

2010

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Cystic fibrosis allele segregation

Nature (London), 1988-07, Vol.334 (6177), p.20-20

1988

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Reproductive genetics. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

Human reproduction (Oxford), 2002-01, Vol.17 (1), p.13

2002

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Geographic distribution within the Netherlands of families with specific mutations in EIRCA1 and BRCA2

European journal of cancer (1990), 1998-09, Vol.34, p.S23-S23

1998

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Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

Human mutation, 1998, Vol.11 (S1), p.S85-S87

1998

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Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients

Human mutation, 1998, Vol.11 (4), p.331-332

1998

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Genetic heterogeneity in tuberous sclerosis

Genomics (San Diego, Calif.), 1990-10, Vol.8 (2), p.237-242

1990

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Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

Laboratory animals (London), 1997-07, Vol.31 (3), p.241-247

1997

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New polymorphic DNA marker close to the fragile site FRAXA

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.129-132

1990

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Benign familial neonatal convulsions

Clinical neurology and neurosurgery, 1991, Vol.93 (4), p.352-352

1991

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PRENATAL DETECTION OF MAJOR CYSTIC FIBROSIS MUTATION

The Lancet (British edition), 1989-10, Vol.334 (8669), p.972-972

1989

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Regional mapping of the human gene for lysosomal ?-glucosidase by in situ hybridization

Human genetics, 1984-08, Vol.67 (3), p.326-328

1984

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Tuberous sclerosis: between genetic and physical analysis

Acta geneticae medicae et gemellologiae, 1996, Vol.45 (1-2), p.63-75

Halley, D J

1996

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Large deletion at the TSC1 locus in a family with tuberous sclerosis complex

Genetic testing, 2005-09, Vol.9 (3), p.226-230

2005

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Intercellular exchange of lysosomal hydrolases between mutant human fibroblasts and other cell types

Experimental cell research, 1980-10, Vol.129 (2), p.383-392

1980

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The distribution of hydrolytic enzyme activities in human fibroblast cultures and their intercellular transfer

Biochemical and biophysical research communications, 1978-06, Vol.82 (4), p.1176-1182

1978

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Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2

Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

DMO01 Cortical brain malformations: impact of clinical, neuroradiological and modern genetic classification

Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients

Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data

Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

Cystic fibrosis allele segregation

Reproductive genetics. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

Geographic distribution within the Netherlands of families with specific mutations in EIRCA1 and BRCA2

Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients

Genetic heterogeneity in tuberous sclerosis

Han:SPRD rat is not a genetic model of human autosomal dominant polycystic kidney disease type 1

New polymorphic DNA marker close to the fragile site FRAXA

Benign familial neonatal convulsions

PRENATAL DETECTION OF MAJOR CYSTIC FIBROSIS MUTATION

Regional mapping of the human gene for lysosomal ?-glucosidase by in situ hybridization

Tuberous sclerosis: between genetic and physical analysis

Large deletion at the TSC1 locus in a family with tuberous sclerosis complex

Intercellular exchange of lysosomal hydrolases between mutant human fibroblasts and other cell types

The distribution of hydrolytic enzyme activities in human fibroblast cultures and their intercellular transfer

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