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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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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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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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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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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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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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Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Cytogenetic and genome research, 2011-01, Vol.135 (3-4), p.251-259

2011

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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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Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

International journal of pediatric otorhinolaryngology, 2015-08, Vol.79 (8), p.1206-1212

2015

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Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

European journal of medical genetics, 2014-09, Vol.57 (9), p.487-493

2014

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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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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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A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

Cytogenetic and genome research, 2011-01, Vol.132 (3), p.135-143

2011

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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, p.863429-8

2015

Volltextzugriff (PDF)

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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The annual incidence of DiGeorge/velocardiofacial syndrome

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

1998

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Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

Journal of dental research, 2017-02, Vol.96 (2), p.179-185

2017

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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

Volltextzugriff (PDF)

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

Hormone research in paediatrics, 2015-01, Vol.83 (5), p.361-364

2015

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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

Volltextzugriff (PDF)

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

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

2005

Volltextzugriff (PDF)

A novel MSX1 mutation in hypodontia

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

2004

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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

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

A Comprehensive Craniofacial Study of 22q11.2 Deletion Syndrome

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

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

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

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

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

Pierre Robin sequence: Management of respiratory and feeding complications during the first year of life in a tertiary referral centre

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

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

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

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

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

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

The annual incidence of DiGeorge/velocardiofacial syndrome

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

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

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment

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

A novel MSX1 mutation in hypodontia

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