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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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A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

Journal of dental research, 2017-11, Vol.96 (12), p.1386-1391

2017

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Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

American journal of neuroradiology : AJNR, 2013-06, Vol.34 (6), p.1257-1263

2013

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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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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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Aetiology of congenital hearing loss: A cohort review of 569 subjects

International journal of pediatric otorhinolaryngology, 2013-09, Vol.77 (9), p.1385-1391

2013

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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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Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

BioMed research international, 2015-01, Vol.2015 (2015), p.1-8

2015

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Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique

International journal of oral and maxillofacial surgery, 2017-10, Vol.46 (10), p.1338-1345

2017

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Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

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Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

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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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RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

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Posterior amorphous corneal dystrophy caused by a de novo deletion

Ophthalmic genetics, 2017-03, Vol.38 (2), p.167-170

2017

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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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Transcription factor GATA3 and the human HDR syndrome

Cellular and molecular life sciences : CMLS, 2001-08, Vol.58 (9), p.1296-1300

2001

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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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Novel PORCN mutations in focal dermal hypoplasia

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

2009

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Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

Journal of medical genetics, 1997-06, Vol.34 (6), p.453-458

1997

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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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Unilateral giant cell lesion of the jaw in Noonan syndrome

JBR-BTR (Bruxelles), 2014-03, Vol.97 (2), p.90

2014

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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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Mathematical disabilities in children with velo-cardio-facial syndrome

Neuropsychologia, 2007-01, Vol.45 (5), p.885-895

2007

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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

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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

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations

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

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

Aetiology of congenital hearing loss: A cohort review of 569 subjects

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

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

Anthropometric and aesthetic outcomes for the nasolabial region in 101 consecutive African children with unilateral cleft lip one year after repair using the anatomical subunit approximation technique

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

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

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Posterior amorphous corneal dystrophy caused by a de novo deletion

A novel MSX1 mutation in hypodontia

Transcription factor GATA3 and the human HDR syndrome

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

Novel PORCN mutations in focal dermal hypoplasia

Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS

DISC1 duplication in two brothers with autism and mild mental retardation

Unilateral giant cell lesion of the jaw in Noonan syndrome

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

Mathematical disabilities in children with velo-cardio-facial syndrome

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

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