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Detailed screening for fetal anomalies and cardiac defects at the 11–13‐week scan

Ultrasound in obstetrics & gynecology, 2006-06, Vol.27 (6), p.613-618

2006

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Burnout syndrome in seafarers in the merchant marine service

International archives of occupational and environmental health, 2013-05, Vol.86 (4), p.407-416

2013

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High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

Cytogenetic and genome research, 2001-01, Vol.92 (3-4), p.186-191

2001

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Re-irradiation with Radiosurgery for Recurrent Glioblastoma Multiforme

Technology in cancer research & treatment, 2011-06, Vol.10 (3), p.253-258

2011

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Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

Cytogenetic and genome research, 2001-01, Vol.93 (3-4), p.188-194

2001

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First-Trimester Prenatal Diagnosis of Okihiro Syndrome

Fetal diagnosis and therapy, 2010-01, Vol.27 (4), p.222-226

2010

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A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset

Prenatal diagnosis, 2010-11, Vol.30 (11), p.1100-1106

2010

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Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature

Ultrasound in obstetrics & gynecology, 2001-03, Vol.17 (3), p.263-267

2001

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Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype

Blood, 1995-09, Vol.86 (6), p.2156-2160

1995

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Factor analysis of exercise capacity, dyspnoea ratings and lung function in patients with severe COPD

The European respiratory journal, 1994-04, Vol.7 (4), p.725-729

1994

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Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen breakage syndrome cells

Cancer research (Chicago, Ill.), 1998-06, Vol.58 (11), p.2316-2322

1998

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The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

American journal of human genetics, 1997-03, Vol.60 (3), p.605-610

1997

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Nijmegen breakage syndrome

Archives of disease in childhood, 2000-05, Vol.82 (5), p.400-406

The, I

2000

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Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Clinical genetics, 2000-02, Vol.57 (2), p.148-150

2000

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Epignathus: always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies

Ultrasound in obstetrics & gynecology, 2003-04, Vol.21 (4), p.397-403

2003

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Effects of Theophylline Withdrawal in Severe Chronic Obstructive Pulmonary Disease

Chest, 1993-10, Vol.104 (4), p.1101-1107

1993

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Lung function, biological monitoring, and biological effect monitoring of gemstone cutters exposed to beryls

Occupational and environmental medicine (London, England), 2000-02, Vol.57 (2), p.133-139

2000

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DNA, FISH and complementation studies in ICF syndrome : DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

Human genetics, 1995-11, Vol.96 (5), p.562-571

1995

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The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p

American journal of human genetics, 1999-05, Vol.64 (5), p.1400-1405

1999

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PARTIAL TRISOMY/MONOSOMY 6q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE

Prenatal diagnosis, 1996-08, Vol.16 (8), p.741-748

1996

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Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn

American journal of medical genetics, 2004-01, Vol.124A (1), p.85-88

2004

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Ulerythema Ophryogenes and Keratosis Pilaris in a Child with Monosomy 18p

Pediatric dermatology, 1994-06, Vol.11 (2), p.172-175

1994

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Light perception in ‘blind’ subterranean Zambian mole-rats

Animal behaviour, 2006-11, Vol.72 (5), p.1021-1024

2006

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Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita

Human genetics, 1991-02, Vol.86 (4), p.414-415

1991

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Localisation of gene for the naevoid basal-cell carcinoma syndrome

The Lancet (British edition), 1992-03, Vol.339 (8793), p.617-617

1992

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Detailed screening for fetal anomalies and cardiac defects at the 11–13‐week scan

Burnout syndrome in seafarers in the merchant marine service

High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome

Re-irradiation with Radiosurgery for Recurrent Glioblastoma Multiforme

Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics

First-Trimester Prenatal Diagnosis of Okihiro Syndrome

A mixture model of nuchal translucency thickness in screening for chromosomal defects: validation of a single operator dataset

Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature

Classification of Fanconi Anemia Patients by Complementation Analysis: Evidence for a Fifth Genetic Subtype

Factor analysis of exercise capacity, dyspnoea ratings and lung function in patients with severe COPD

Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen breakage syndrome cells

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

Nijmegen breakage syndrome

Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus

Epignathus: always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies

Effects of Theophylline Withdrawal in Severe Chronic Obstructive Pulmonary Disease

Lung function, biological monitoring, and biological effect monitoring of gemstone cutters exposed to beryls

DNA, FISH and complementation studies in ICF syndrome : DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor

The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p

PARTIAL TRISOMY/MONOSOMY 6q IN FETAL CELLS AND CVS LONG-TERM CULTURE NOT PRESENT IN CVS SHORT-TERM CULTURE

Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn

Ulerythema Ophryogenes and Keratosis Pilaris in a Child with Monosomy 18p

Light perception in ‘blind’ subterranean Zambian mole-rats

Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita

Localisation of gene for the naevoid basal-cell carcinoma syndrome

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