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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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Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families

Human molecular genetics, 1999-01, Vol.8 (1), p.69-79

1999

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The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age

Ultraschall in der Medizin, 2011-06, Vol.32 (3), p.302-306

2011

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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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Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics

Cytogenetic and genome research, 2006-08, Vol.114 (3-4), p.296-301

2006

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Dystocia and Fetotomy Associated with Cerebral Aplasia in a Greater One-horned Rhinoceros (Rhinoceros unicornis)

Reproduction in domestic animals, 2011-02, Vol.46 (1), p.e97-e101

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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Zytogenetische Methoden in der Pränataldiagnostik

Medizinische Genetik, 2011-12, Vol.23 (4), p.457-462

2011

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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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First-Trimester Prenatal Diagnosis of Okihiro Syndrome

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

2010

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Predominance of Null Mutations in Ataxia-Telangiectasia

Human molecular genetics, 1996-04, Vol.5 (4), p.433-439

1996

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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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Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

Human molecular genetics, 2001-04, Vol.10 (8), p.797-806

2001

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Genomic chondrocyte culture profiling by array-CGH, interphase-FISH and RT-PCR

Osteoarthritis and cartilage, 2012-09, Vol.20 (9), p.1039-1045

2012

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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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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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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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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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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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Pallister-Killian Syndrome: Rare Phenotypic Features and Variable Karyotypes

Balkan journal of medical genetics, 2008-01, Vol.11 (2), p.65-67

2008

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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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10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Cytogenetic and genome research, 2009-01, Vol.124 (1), p.102-105

2009

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

Characterization of ATM Gene Mutations in 66 Ataxia Telangiectasia Families

The impact of first trimester screening and early fetal anomaly scan on invasive testing rates in women with advanced maternal age

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

Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics

Dystocia and Fetotomy Associated with Cerebral Aplasia in a Greater One-horned Rhinoceros (Rhinoceros unicornis)

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

Zytogenetische Methoden in der Pränataldiagnostik

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

First-Trimester Prenatal Diagnosis of Okihiro Syndrome

Predominance of Null Mutations in Ataxia-Telangiectasia

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

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

Genomic chondrocyte culture profiling by array-CGH, interphase-FISH and RT-PCR

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

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

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

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

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

Pallister-Killian Syndrome: Rare Phenotypic Features and Variable Karyotypes

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

10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences

Nijmegen breakage syndrome

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

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