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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Human molecular genetics, 2013-02, Vol.22 (4), p.696-703

2013

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Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

The New England journal of medicine, 1998-04, Vol.338 (18), p.1317-1318

1998

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Embryologie en genetica bij schisis

Tijdschrift voor geneeskunde, 2023-04

2023

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Unilateral Peters' anomaly in a patient with DiGeorge syndrome

Journal of pediatric ophthalmology and strabismus, 2005-09, Vol.42 (5), p.311-313

2005

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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

American journal of human genetics, 2007-05, Vol.80 (5), p.994-1001

2007

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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

American journal of human genetics, 2003-06, Vol.72 (6), p.1470-1478

2003

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Right aortic arch with vascular ring in one monozygotic twin

The Journal of thoracic and cardiovascular surgery, 2005-09, Vol.130 (3), p.883-884

2005

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Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

American journal of human genetics, 2000-08, Vol.67 (2), p.295-301

2000

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Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

Investigative ophthalmology & visual science, 2015-02, Vol.56 (3), p.1701-1710

2015

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Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli

American journal of human genetics, 1999-07, Vol.65 (1), p.249-251

1999

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

Nature genetics, 2001-03, Vol.27 (3), p.313-317

2001

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E-book: Schisis - Uitgave 2023

Tijdschrift voor geneeskunde, 2023-08

2023

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

American journal of human genetics, 2003-02, Vol.72 (2), p.478-487

2003

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Hnf1b mutations in patients with congenital abnormalities of kidney and urinary tract : are we screening too much?

Archives of disease in childhood, 2014-10, Vol.99 (10), p.A94

2014

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O-182Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much?

Archives of disease in childhood, 2014-10, Vol.99 (Suppl 2), p.A94-A94

2014

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Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

Human molecular genetics, 2005-07, Vol.14 (13), p.1795-1803

2005

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Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

Blood, 2001-07, Vol.98 (1), p.85-92

2001

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GATA3 haplo-insufficiency causes human HDR syndrome

Nature (London), 2000-07, Vol.406 (6794), p.419-422

2000

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Clinical and molecular genetic features of congenital spinal muscular atrophy

Annals of neurology, 1996-11, Vol.40 (5), p.731-738

1996

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

Human molecular genetics, 2001-07, Vol.10 (15), p.1591-1600

2001

Volltextzugriff (PDF)

O-182 Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much?

Archives of disease in childhood, 2014-10, Vol.99 (Suppl 2), p.A94-A94

2014

Volltextzugriff (PDF)

Moet de nieuwe niet-invasieve prenatale test voor het syndroom van Down worden terugbetaald?

Tijdschrift voor geneeskunde, 2014 (13), p.776-779

2014

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The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees

Annals of neurology, 1997-09, Vol.42 (3), p.360-364

1997

Volltextzugriff (PDF)

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

The Journal of pediatrics, 2000-08, Vol.137 (2), p.272-276

2000

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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Deletion of Thyroid Transcription Factor-1 Gene in an Infant with Neonatal Thyroid Dysfunction and Respiratory Failure

Embryologie en genetica bij schisis

Unilateral Peters' anomaly in a patient with DiGeorge syndrome

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

Right aortic arch with vascular ring in one monozygotic twin

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus

Haploinsufficiency of the HOXA Gene Cluster, in a Patient with Hand-Foot-Genital Syndrome, Velopharyngeal Insufficiency, and Persistent Patent Ductus Botalli

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

E-book: Schisis - Uitgave 2023

VEGF : A modifier of the del22q11 (DiGeorge) syndrome?

FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation

Hnf1b mutations in patients with congenital abnormalities of kidney and urinary tract : are we screening too much?

O-182Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much?

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation

GATA3 haplo-insufficiency causes human HDR syndrome

Clinical and molecular genetic features of congenital spinal muscular atrophy

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

O-182 Hnf1b Mutations In Patients With Congenital Abnormalities Of Kidney And Urinary Tract (cakut): Are We Screening Too Much?

Moet de nieuwe niet-invasieve prenatale test voor het syndroom van Down worden terugbetaald?

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees

Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure

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