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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

Journal of neurology, neurosurgery and psychiatry, 2009-04, Vol.80 (4), p.426-428

2009

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The beaver's reconquest of Eurasia: status, population development and management of a conservation success

Mammal review, 2002-09, Vol.32 (3), p.153-178

2002

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Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

Clinical genetics, 2007-08, Vol.72 (2), p.122-129

2007

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Diet: tissue stable isotope fractionation of carbon and nitrogen in blood plasma and whole blood of male reindeer Rangifer tarandus

Polar biology, 2010-10, Vol.33 (10), p.1303-1309

2010

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Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

Neurogenetics, 2009-10, Vol.10 (4), p.333-336

2009

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Excavation and architecture of Argentine ant nests

Insectes sociaux, 2005-11, Vol.52 (4), p.350-356

2005

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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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Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings

The Journal of clinical investigation, 2001-12, Vol.108 (11), p.1705-1715

2001

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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

Neurology, 2007-01, Vol.68 (2), p.110

2007

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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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Nonequilibrium dynamics of social groups: insights from foraging Argentine ants

Insectes sociaux, 2004-08, Vol.51 (3), p.226-231

2004

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Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood

European journal of pediatrics, 1999-04, Vol.158 (4), p.284-287

1999

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Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber

Neurology, 2004-10, Vol.63 (7), p.1293

2004

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The spectrum of mutations in UBE3A causing Angelman syndrome

Human molecular genetics, 1999, Vol.8 (1), p.129-135

1999

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Mental status of females with an FMR1 gene full mutation

American journal of human genetics, 1996-05, Vol.58 (5), p.1025-1032

1996

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Plant traits link hypothesis about resource-use and response to herbivory

Basic and applied ecology, 2009-08, Vol.10 (5), p.466-474

2009

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

Archives of disease in childhood, 1998-05, Vol.78 (5), p.408-412

1998

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A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting

Gut, 2008-11, Vol.57 (11), p.1539-1544

2008

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Partial Cosegregation of Familial Hemiplegic Migraine and a Benign Familial Infantile Epileptic Syndrome

Epilepsia (Copenhagen), 1997-08, Vol.38 (8), p.915-921

1997

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Colony Attendance Patterns and Recruitment in Immature Common Murres (Uria aalge)

The Auk, 1995-10, Vol.112 (4), p.947-957

1995

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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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Self-organizing circuitry and emergent computation in mouse embryonic stem cells

Stem cell research, 2012-03, Vol.8 (2), p.324-333

2012

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High Rate of Mosaicism in Tuberous Sclerosis Complex

American journal of human genetics, 1999-06, Vol.64 (6), p.1632-1637

1999

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Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients

Arteriosclerosis, thrombosis, and vascular biology, 1997-11, Vol.17 (11), p.2837

1997

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Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion

Human genetics, 2005-07, Vol.117 (2-3), p.300-300

2005

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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

The beaver's reconquest of Eurasia: status, population development and management of a conservation success

Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification

Diet: tissue stable isotope fractionation of carbon and nitrogen in blood plasma and whole blood of male reindeer Rangifer tarandus

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation

Excavation and architecture of Argentine ant nests

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

Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

Nonequilibrium dynamics of social groups: insights from foraging Argentine ants

Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood

Differential localization of hamartin and tuberin and increased S6 phosphorylation in a tuber

The spectrum of mutations in UBE3A causing Angelman syndrome

Mental status of females with an FMR1 gene full mutation

Plant traits link hypothesis about resource-use and response to herbivory

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

A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting

Partial Cosegregation of Familial Hemiplegic Migraine and a Benign Familial Infantile Epileptic Syndrome

Colony Attendance Patterns and Recruitment in Immature Common Murres (Uria aalge)

Survival in Hereditary Breast Cancer Associated With Germline Mutations of BRCA2

Self-organizing circuitry and emergent computation in mouse embryonic stem cells

High Rate of Mosaicism in Tuberous Sclerosis Complex

Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients

Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsion

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