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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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Clinical implementation of NIPT - technical and biological challenges

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

2016

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Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

Prenatal diagnosis, 2013-12, Vol.33 (13), p.1283-1292

2013

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The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing

Clinical genetics, 2014-09, Vol.86 (3), p.207-216

2014

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Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Journal of intellectual disability research, 2007-09, Vol.51 (9), p.666-670

2007

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Randomized clinical trial on the influence of anaesthesia protocol on intestinal motility during laparoscopic surgery requiring small bowel anastomosis

British journal of surgery, 2012-11, Vol.99 (11), p.1524-1529

2012

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Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.313-318

2010

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A novel MSX1 mutation in hypodontia

American journal of medical genetics, 2004-08, Vol.128A (4), p.401-403

2004

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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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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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Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene

Clinical genetics, 2012-07, Vol.82 (1), p.93-96

2012

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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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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.296-312

2015

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Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)

Prenatal diagnosis, 2002-01, Vol.22 (1), p.29-33

2002

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Prenatal diagnosis of schizencephaly after inhalation of organic solvents

Ultrasound in obstetrics & gynecology, 2007-03, Vol.29 (3), p.356-357

2007

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Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia

Orthodontics & craniofacial research, 2008-02, Vol.11 (1), p.24-31

2008

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A case of left isomerism with early fetal decompensation

Ultrasound in obstetrics & gynecology, 2007-09, Vol.30 (3), p.363-364

2007

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Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

Clinical genetics, 2002-11, Vol.62 (5), p.415-417

2002

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Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings

Journal of intellectual disability research, 2008-10, Vol.52 (10), p.815-815

2008

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Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

American journal of medical genetics, 2003-06, Vol.119A (2), p.188-193

2003

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Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

American journal of medical genetics, 2003-07, Vol.120A (1), p.49-58

2003

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ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

Clinical genetics, 2004-06, Vol.65 (6), p.503-505

2004

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The V2O5/TiO2 (anatase) model catalyst structure: XPD study and single scattering cluster simulations

Surface and interface analysis, 2000-02, Vol.29 (2), p.139-144

2000

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

Clinical implementation of NIPT - technical and biological challenges

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia

The communication of secondary variants: interviews with parents whose children have undergone array-CGH testing

Intellectual abilities in a large sample of children with Velo-Cardio-Facial Syndrome: an update

Randomized clinical trial on the influence of anaesthesia protocol on intestinal motility during laparoscopic surgery requiring small bowel anastomosis

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

A novel MSX1 mutation in hypodontia

Novel PORCN mutations in focal dermal hypoplasia

DISC1 duplication in two brothers with autism and mild mental retardation

Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene

Psychotic disorders in Prader-Willi syndrome

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH)

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

Prenatal diagnosis of schizencephaly after inhalation of organic solvents

Investigating the etiology of multiple tooth agenesis in three sisters with severe oligodontia

A case of left isomerism with early fetal decompensation

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

Parental perception of sleep behaviour and sleep disorders in children with VCFS and their siblings

Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study

Variable phenotype in Greig cephalopolysyndactyly syndrome: Clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations

ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism

The V2O5/TiO2 (anatase) model catalyst structure: XPD study and single scattering cluster simulations

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