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Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium

Journal of medical genetics, 2013-06, Vol.50 (6), p.360-367

2013

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Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

Clinical endocrinology (Oxford), 2009-02, Vol.70 (2), p.252-258

2009

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A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis

European journal of medical genetics, 2011-09, Vol.54 (5), p.e505-e509

2011

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Lp(a) Lipoprotein and Plasminogen Activity in Patients with Different Etiology of Ischemic Stroke

Cerebrovascular diseases (Basel, Switzerland), 2007-02, Vol.23 (2-3), p.188-193

2007

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Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.488-495

2006

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Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the a subunit of the epithelial sodium channel

Clinical endocrinology (Oxford), 2009-02, Vol.70 (2), p.252-258

2009

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Genetic heterogeneity of severe von Willebrand disease type III in the German population

Human genetics, 1994-12, Vol.94 (6), p.640-652

1994

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Problems in detecting mosaic DNA methylation in Angelman syndrome

European journal of human genetics : EJHG, 2003-12, Vol.11 (12), p.913-915

2003

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Isoelectric focusing pattern of human amniotic fluid α-fetoprotein

Prenatal diagnosis, 1991-07, Vol.11 (7), p.427-435

1991

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Clonal t(8;14)(p11;q31) in a case of reactive lymphoproliferation

Genes chromosomes & cancer, 1993-07, Vol.7 (3), p.165-168

1993

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Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

American Journal of Medical Genetics Part A, 2006, Vol.140A (5), p.488-495

2006

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Isoelectric focusing of amniotic fluid α-fetoprotein to improve diagnosis of neural tube defects

The Lancet (British edition), 1991-03, Vol.337 (8742), p.674-674

1991

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Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel

A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis

Lp(a) Lipoprotein and Plasminogen Activity in Patients with Different Etiology of Ischemic Stroke

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the a subunit of the epithelial sodium channel

Genetic heterogeneity of severe von Willebrand disease type III in the German population

Problems in detecting mosaic DNA methylation in Angelman syndrome

Isoelectric focusing pattern of human amniotic fluid α-fetoprotein

Clonal t(8;14)(p11;q31) in a case of reactive lymphoproliferation

Characterization of two supernumerary marker chromosomes in a patient with signs of Klinefelter syndrome, mild facial anomalies, and severe speech delay

Isoelectric focusing of amniotic fluid α-fetoprotein to improve diagnosis of neural tube defects

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