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Epigenotype–phenotype correlations in Silver–Russell syndrome

Journal of medical genetics, 2010-11, Vol.47 (11), p.760-768

2010

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Down syndrome: a cardiovascular perspective

Journal of intellectual disability research, 2009-05, Vol.53 (5), p.419-425

2009

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Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1517-1519

2013

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Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta‐analysis

Ultrasound in obstetrics & gynecology, 2015-01, Vol.45 (1), p.27-35

2015

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Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

Neurology, 2001-03, Vol.56 (6), p.749-752

2001

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Classification of Osteogenesis Imperfecta revisited

European journal of medical genetics, 2010-01, Vol.53 (1), p.1-5

2010

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Osteogenesis Imperfecta: A Review with Clinical Examples

Molecular syndromology, 2011-12, Vol.2 (1), p.1-20

2011

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Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy

American journal of human genetics, 1995-10, Vol.57 (4), p.805-808

1995

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Compound-heterozygous Marfan syndrome

European journal of medical genetics, 2009-01, Vol.52 (1), p.1-5

2009

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NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

European journal of medical genetics, 2017-09, Vol.60 (9), p.465-473

2017

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Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development

Human molecular genetics, 1996-05, Vol.5 (5), p.571-579

1996

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A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

European journal of medical genetics, 2014-11, Vol.57 (11), p.636-638

2014

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Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

American journal of human genetics, 1996-10, Vol.59 (4), p.834-838

1996

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Survival in SMA type I: A prospective analysis of 34 consecutive cases

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.541-544

2008

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Low levels of prenatal alcohol exposure can cause fetal damage

BJOG : an international journal of obstetrics and gynaecology, 2007-06, Vol.114 (6), p.778-779

2007

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Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report

Prenatal diagnosis, 2004-10, Vol.24 (10), p.796-798

2004

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A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

European journal of medical genetics, 2012-01, Vol.55 (1), p.17-21

2012

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Preimplantation genetic diagnosis of spinal muscular atrophy

Molecular human reproduction, 1998-09, Vol.4 (9), p.881-885

1998

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PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

The Lancet (British edition), 1995-04, Vol.345 (8955), p.985-986

1995

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Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

BMC medical genetics, 2015-07, Vol.16 (1), p.50-50, Article 50

2015

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The EEC syndrome: a literature study

Clinical dysmorphology, 1996-04, Vol.5 (2), p.115-127

1996

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Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease

Kidney international, 1990-11, Vol.38 (5), p.880-885

1990

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Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations

Clinical genetics, 1997-10, Vol.52 (4), p.219-225

1997

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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

Journal of medical genetics, 2000-04, Vol.37 (4), p.303-307

2000

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P33.04: Prenatal diagnosis of mirror‐polydactyly of the feet

Ultrasound in obstetrics & gynecology, 2007-10, Vol.30 (4), p.578-578

2007

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Epigenotype–phenotype correlations in Silver–Russell syndrome

Down syndrome: a cardiovascular perspective

Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta‐analysis

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

Classification of Osteogenesis Imperfecta revisited

Osteogenesis Imperfecta: A Review with Clinical Examples

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy

Compound-heterozygous Marfan syndrome

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield

Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development

A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5

Survival in SMA type I: A prospective analysis of 34 consecutive cases

Low levels of prenatal alcohol exposure can cause fetal damage

Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient

Preimplantation genetic diagnosis of spinal muscular atrophy

PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

The EEC syndrome: a literature study

Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease

Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations

Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome

P33.04: Prenatal diagnosis of mirror‐polydactyly of the feet

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