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Fetal megacystis: a lot more than LUTO

Ultrasound in obstetrics & gynecology, 2019-06, Vol.53 (6), p.779-787

2019

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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Genetics in medicine, 2021-04, Vol.23 (4), p.645-652

2021

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Fine mapping of the 9q31 Hirschsprung's disease locus

Human genetics, 2010-06, Vol.127 (6), p.675-683

2010

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Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Clinical genetics, 2008-11, Vol.74 (5), p.455-462

2008

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An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

European journal of medical genetics, 2009-09, Vol.52 (5), p.353-357

2009

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Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

Journal of medical genetics, 2002-02, Vol.39 (2), p.91-97

2002

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Folic acid supplementation influences the distribution of neural tube defect subtypes: A registry-based study

Reproductive toxicology (Elmsford, N.Y.), 2016-01, Vol.59, p.96-100

2016

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X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

Neuromuscular disorders : NMD, 2012-05, Vol.22 (5), p.384-388

2012

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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Molecular syndromology, 2013-03, Vol.4 (3), p.107-113

2013

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Costs, effects, and savings of screening for cystic fibrosis gene carriers

Journal of epidemiology and community health (1979), 1998-07, Vol.52 (7), p.459-467

1998

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Cost of care of patients with cystic fibrosis in The Netherlands in 1990-1

Thorax, 1996-03, Vol.51 (3), p.298-301

1996

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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

American journal of medical genetics. Part A, 2006-02, Vol.140A (3), p.284-290

2006

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The nonhospital costs of care of patients with CF in The Netherlands: results of a questionnaire

The European respiratory journal, 1996-11, Vol.9 (11), p.2215-2219

1996

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Bilateral split hand/foot malformation and inv(7)(p22q21.3)

Journal of medical genetics, 1995-05, Vol.32 (5), p.375-378

1995

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Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22

American journal of medical genetics, 1999-09, Vol.86 (2), p.168-173

1999

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Comparison of single-entry and double-entry two-step couple screening for cystic fibrosis carriers

Human heredity, 1996-01, Vol.46 (1), p.20

1996

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Mendelian phenotypes in The Netherlands

Human heredity, 1993-07, Vol.43 (4), p.223

1993

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Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome

Human genetics, 2003-01, Vol.112 (1), p.103-103

2003

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Preconceptional screening of couples for carriers of cystic fibrosis: a prospective evaluation of effects, costs and savings for different mutation detection methods

Community genetics, 1999, Vol.2 (2-3), p.74-81

1999

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Preconception screening of parents and carrier state of cystic fibrosis in the Netherlands: expenses and savings

Nederlands tijdschrift voor geneeskunde, 1998-03, Vol.142 (13), p.706

1998

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Incidence and prevalence of genetically-determined disorders in The Netherlands; a literature study

Nederlands tijdschrift voor geneeskunde, 1994-01, Vol.138 (2), p.71

1994

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Nature genetics, 2009-12, Vol.41 (12), p.1272-1274

2009

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Polysaccharide Conjugate Vaccine against Pneumococcal Pneumonia in Adults

The New England journal of medicine, 2015-03, Vol.372 (12), p.1114-1125

2015

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Aetiology of lower respiratory tract infection in adults in primary care: a prospective study in 11 European countries

Clinical microbiology and infection, 2018-11, Vol.24 (11), p.1158-1163

2018

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Fetal megacystis: a lot more than LUTO

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

Fine mapping of the 9q31 Hirschsprung's disease locus

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease

Folic acid supplementation influences the distribution of neural tube defect subtypes: A registry-based study

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Costs, effects, and savings of screening for cystic fibrosis gene carriers

Cost of care of patients with cystic fibrosis in The Netherlands in 1990-1

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

The nonhospital costs of care of patients with CF in The Netherlands: results of a questionnaire

Bilateral split hand/foot malformation and inv(7)(p22q21.3)

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22

Comparison of single-entry and double-entry two-step couple screening for cystic fibrosis carriers

Mendelian phenotypes in The Netherlands

Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome

Preconceptional screening of couples for carriers of cystic fibrosis: a prospective evaluation of effects, costs and savings for different mutation detection methods

Preconception screening of parents and carrier state of cystic fibrosis in the Netherlands: expenses and savings

Incidence and prevalence of genetically-determined disorders in The Netherlands; a literature study

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

Polysaccharide Conjugate Vaccine against Pneumococcal Pneumonia in Adults

Aetiology of lower respiratory tract infection in adults in primary care: a prospective study in 11 European countries

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

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