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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Journal of medical genetics, 2000-03, Vol.37 (3), p.168-176

2000

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Hepatocellular carcinoma in glycogen storage disease type IV

Archives of disease in childhood, 2000-06, Vol.82 (6), p.479-480

2000

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Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate)

European journal of pediatrics, 1997-10, Vol.156 (10), p.792-794

1997

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Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

The Lancet (British edition), 1989-12, Vol.2 (8675), p.1291-1294

1989

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New mutations in two Dutch patients with early infantile galactosialidosis

Molecular genetics and metabolism, 2003-03, Vol.78 (3), p.222-228

2003

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Durch mütterliche Autoantikörper verursachter neonataler Hirninfarkt

Klinische Pädiatrie, 2010, Vol.222 (2)

2010

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MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours

British journal of cancer, 1992-06, Vol.65 (6), p.903-907

1992

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Oculoauriculovertebral spectrum and cerebral anomalies

Journal of medical genetics, 1992-05, Vol.29 (5), p.326-331

1992

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Adult adrenoleukodystrophy : the clinical spectrum in a large Dutch family

Journal of neurology, 1992-02, Vol.239 (2), p.107-111

1992

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Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis

Human genetics, 1991-02, Vol.86 (4), p.404-407

1991

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Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs

European journal of pediatrics, 1987-09, Vol.146 (5), p.532-536

1987

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Holoprosencephaly: variation of expression in face and brain in three sibs

Journal of medical genetics, 1989-04, Vol.26 (4), p.274-276

1989

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Glutaric aciduria type. II: Treatment with riboflavine, carnitine and insulin

European journal of pediatrics, 1984-12, Vol.143 (2), p.92-95

1984

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β-glucuronidase deficiency as a cause of fetal hydrops

American journal of medical genetics, 1992-03, Vol.42 (5), p.693-695

1992

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Familial vascular retinopathy : a preliminary report

Documenta ophthalmologica, 1990-10, Vol.75 (3-4), p.259-261

1990

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Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

Archives of disease in childhood, 1987-10, Vol.62 (10), p.1066-1067

1987

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Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient β-oxidation in fibroblasts

Journal of inherited metabolic disease, 1984, Vol.7 Suppl 2 (2), p.101-102

1984

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Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome

Clinica chimica acta, 1987-06, Vol.166 (1), p.45-56

1987

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Menkes X linked disease: two clonal cell populations in heterozygotes

Journal of medical genetics, 1980-08, Vol.17 (4), p.262-266

1980

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Successful treatment of severe carbamyl phosphate synthetase I deficiency

Archives of disease in childhood, 1984-12, Vol.59 (12), p.1183-1185

1984

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Tracking Hydrocarbon Plume Transport and Biodegradation at Deepwater Horizon

Science (American Association for the Advancement of Science), 2010-10, Vol.330 (6001), p.201-204

2010

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Molecular analysis of SALLI mutations in Townes-Brocks syndrome

American journal of human genetics, 1999, Vol.64 (2), p.435-445

1999

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Metabolic acidosis in children: the usefulness of 'anion gap'

Nederlands tijdschrift voor geneeskunde, 1999-03, Vol.143 (13), p.649

1999

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Werdnig-Hoffmann disease in a Nigerian infant

Tropical and geographical medicine, 1989-07, Vol.41 (3), p.282

1989

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Hepatocellular carcinoma in glycogen storage disease type IV

Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate)

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

New mutations in two Dutch patients with early infantile galactosialidosis

Durch mütterliche Autoantikörper verursachter neonataler Hirninfarkt

MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours

Impact of the COVID-19 pandemic on surgical care in the Netherlands

Oculoauriculovertebral spectrum and cerebral anomalies

Adult adrenoleukodystrophy : the clinical spectrum in a large Dutch family

Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis

Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs

Holoprosencephaly: variation of expression in face and brain in three sibs

Glutaric aciduria type. II: Treatment with riboflavine, carnitine and insulin

β-glucuronidase deficiency as a cause of fetal hydrops

Familial vascular retinopathy : a preliminary report

Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV

Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient β-oxidation in fibroblasts

Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome

Menkes X linked disease: two clonal cell populations in heterozygotes

Successful treatment of severe carbamyl phosphate synthetase I deficiency

Tracking Hydrocarbon Plume Transport and Biodegradation at Deepwater Horizon

Molecular analysis of SALLI mutations in Townes-Brocks syndrome

Metabolic acidosis in children: the usefulness of 'anion gap'

Werdnig-Hoffmann disease in a Nigerian infant

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