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The annual incidence of DiGeorge/velocardiofacial syndrome

Journal of medical genetics, 1998-09, Vol.35 (9), p.789-790

1998

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Psychotic disorders in Prader-Willi syndrome

American journal of medical genetics, 2004-06, Vol.127A (3), p.238-243

2004

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DISC1 duplication in two brothers with autism and mild mental retardation

Clinical genetics, 2010-04, Vol.77 (4), p.389-394

2010

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Novel PORCN mutations in focal dermal hypoplasia

Clinical genetics, 2009-12, Vol.76 (6), p.535-543

2009

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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.299-306

2005

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Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders

European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.238-240

2004

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Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

Nature genetics, 2000-10, Vol.26 (2), p.247-250

2000

Volltextzugriff (PDF)

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

Human genetics, 2003-05, Vol.112 (5-6), p.573-580

2003

Volltextzugriff (PDF)

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children

Journal of intellectual disability research, 2005-01, Vol.49 (1), p.33-46

2005

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Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

Human reproduction (Oxford), 2009-06, Vol.24 (6), p.1522-1528

2009

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

Human mutation, 2005-01, Vol.25 (1), p.56-63

2005

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The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

European journal of medical genetics, 2005-07, Vol.48 (3), p.276-289

2005

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

European heart journal, 2007-11, Vol.28 (22), p.2778-2784

2007

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The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

Journal of medical genetics, 2003-05, Vol.40 (5), p.352-356

2003

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Rett syndrome in females with CTS hot spot deletions: A disorder profile

American journal of medical genetics, 2005-01, Vol.132A (2), p.117-120

2005

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

American journal of human genetics, 2005-09, Vol.77 (3), p.442-453

2005

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A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Nature genetics, 1999-09, Vol.23 (1), p.25-31

1999

Volltextzugriff (PDF)

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.17-23

2006

Volltextzugriff (PDF)

A Comparative Study on Culture Conditions and Routine Expansion of Amniotic Fluid-Derived Mesenchymal Progenitor Cells

Fetal diagnosis and therapy, 2013-01, Vol.34 (4), p.225-235

2013

Volltextzugriff (PDF)

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Cytogenetic and genome research, 2006-11, Vol.115 (3-4), p.225-230

2006

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Recombination hotspot in NF1 microdeletion patients

Human molecular genetics, 2001-06, Vol.10 (13), p.1387-1392

2001

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The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

Journal of medical genetics, 2002-02, Vol.39 (2), p.98-104

2002

Volltextzugriff (PDF)

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Nature genetics, 2000-02, Vol.24 (2), p.167-170

2000

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Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

Journal of medical genetics, 2003-01, Vol.40 (1), p.72-73

2003

Volltextzugriff (PDF)

Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

Human molecular genetics, 1997-08, Vol.6 (8), p.1383-1387

1997

Volltextzugriff (PDF)

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The annual incidence of DiGeorge/velocardiofacial syndrome

Psychotic disorders in Prader-Willi syndrome

DISC1 duplication in two brothers with autism and mild mental retardation

Novel PORCN mutations in focal dermal hypoplasia

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders

Mutations in ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

PA26 is a candidate gene for heterotaxia in humans: identification of a novel PA26-related gene family in human and mouse

Behavioural, academic and neuropsychological profile of normally gifted Neurofibromatosis type 1 children

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

DNMT3B mutations and DNA methylation defect define two types of ICF syndrome

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

Rett syndrome in females with CTS hot spot deletions: A disorder profile

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Fryns syndrome

A Comparative Study on Culture Conditions and Routine Expansion of Amniotic Fluid-Derived Mesenchymal Progenitor Cells

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation

Recombination hotspot in NF1 microdeletion patients

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome

Germline Mutations in the PTEN/MMAC1 Gene in Patients With Cowden Disease

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