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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

The New England journal of medicine, 2015-05, Vol.372 (20), p.1887-1897

2015

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Journal of medical genetics, 2006-04, Vol.43 (4), p.306-314

2006

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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Clinical genetics, 2017-08, Vol.92 (2), p.166-171

2017

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Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

Heart (British Cardiac Society), 2010-08, Vol.96 (16), p.1268-1274

2010

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Clinical implementation of NIPT - technical and biological challenges

Clinical genetics, 2016-05, Vol.89 (5), p.523-530

2016

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Journal of medical genetics, 2006-08, Vol.43 (8), p.625-633

2006

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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

Human mutation, 2009-09, Vol.30 (9), p.E845-E854

2009

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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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Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Molecular syndromology, 2012-06, Vol.3 (1), p.14-20

2012

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Clinical and molecular aspects of RAS related disorders

Journal of medical genetics, 2008-11, Vol.45 (11), p.695-703

2008

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The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

Journal of medical genetics, 2008-03, Vol.45 (3), p.189-192

2008

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17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Journal of medical genetics, 2009-08, Vol.46 (8), p.524-530

2009

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Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature

Indian pacing and electrophysiology journal, 2014-05, Vol.14 (3), p.133-149

2014

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698

2004

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Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY

Annals of the New York Academy of Sciences, 2009-01, Vol.1151 (1), p.68-76

2009

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Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

European journal of medical genetics, 2012-11, Vol.55 (11), p.577-585

2012

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Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111

2010

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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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First trimester diagnosis of sirenomelia

Prenatal diagnosis, 2006-08, Vol.26 (8), p.684-688

2006

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Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene

Acta clinica belgica (English ed. Online), 2014-04, Vol.69 (2), p.139-141

2014

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Journal of medical genetics, 2009-08, Vol.46 (8), p.511-523

2009

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Analysis of the upper respiratory tract microbiotas as the source of the lung and gastric microbiotas in healthy individuals

mBio, 2015-05, Vol.6 (2), p.e00037-e00037

2015

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Molecular and Genealogical Evidence for a Founder Effect in Fanconi Anemia Families of the Afrikaner Population of South Africa

Proceedings of the National Academy of Sciences - PNAS, 2001-05, Vol.98 (10), p.5734-5739

2001

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Can the detection dog alert on COVID-19 positive persons by sniffing axillary sweat samples? A proof-of-concept study

PloS one, 2020-12, Vol.15 (12), p.e0243122-e0243122

2020

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Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin

Clinical implementation of NIPT - technical and biological challenges

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

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

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Clinical and molecular aspects of RAS related disorders

The facial dysmorphy in the newly recognised microdeletion 2p15–p16.1 refined to a 570 kb region in 2p15

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

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

First trimester diagnosis of sirenomelia

Pulmonary arterio-venous malformations in a patient with a novel mutation in exon 10 of the ACVRL1 gene

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Analysis of the upper respiratory tract microbiotas as the source of the lung and gastric microbiotas in healthy individuals

Molecular and Genealogical Evidence for a Founder Effect in Fanconi Anemia Families of the Afrikaner Population of South Africa

Can the detection dog alert on COVID-19 positive persons by sniffing axillary sweat samples? A proof-of-concept study

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