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Erratum to “Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation” [Thrombosis Research 128 (2011) 498–500]

Thrombosis research, 2012-07, Vol.130 (1), p.139-139

2012

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Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation

Thrombosis research, 2011-11, Vol.128 (5), p.498-500

2011

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FXIII deficiency due to base exchange Thr 449 (ACT) --> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding?

Hämostaseologie, 2010-08, Vol.30 (3), p.162-164

2010

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Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

Hämostaseologie, 2009-05, Vol.29 (2), p.187-189

2009

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Increased nuchal translucency, hydrops fetalis or hygroma colli : A new test strategy for early fetal aneuploidy detection

Fetal diagnosis and therapy, 2001-07, Vol.16 (4), p.211-214

2001

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Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography

Haematologica (Roma), 2006-09, Vol.91 (9), p.1264-1267

2006

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Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF–PCR in 662 selected pregnancies at risk

Molecular human reproduction, 2000-09, Vol.6 (9), p.855-860

2000

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Molecular Defects in Hemophilia A: Identification and Characterization of Mutations in the Factor VIII Gene and Family Analysis

Blood, 1989-08, Vol.74 (3), p.1045-1051

1989

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Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes

Acta endocrinologica (Copenhagen), 1992-01, Vol.126 (1), p.7-9

1992

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Die hereditäre Thrombophilie: Fortschritte in der Diagnostik

Hämostaseologie, 1999-04, Vol.19 (2), p.77-85

1999

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Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles

Blood coagulation & fibrinolysis, 1994-08, Vol.5 (4), p.497

1994

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A somatic mosaic for haemophilia A detected at the DNA level

Molecular biology & medicine, 1988-02, Vol.5 (1), p.23

1988

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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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Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain

Thrombosis research, 1991-02, Vol.61 (3), p.225-234

1991

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Pseudohomozygous APC Resistance Report on Two Patients and a Novel Mutation in the Factor V Gene

37th Hemophilia Symposium, p.193-197

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Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A

American journal of human genetics, 1990-10, Vol.47 (4), p.743-744

1990

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Pregnancy in a Patient with Congenital Antithrombin Deficiency

36th Hemophilia Symposium Hamburg 2005, 2006, p.190-194

2006

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Increased Nuchal Translucency, Hydrops fetalis or Hygroma colli

Fetal diagnosis and therapy, 2001-04, Vol.16 (4), p.211-214

2001

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Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.65-71

1990

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Bleeding Tendency in Factor XI Deficiency: Report on two Families and the Detection of a Novel Mutation within the Factor XI Gene

34th Hemophilia Symposium, p.165-169

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Falsely increased HbA1c values by HPLC and falsely decreased values by immunoassay lead to identification of Hb Okayama and help in the management of a diabetic patient

Clinical laboratory (Heidelberg), 2000, Vol.46 (11-12), p.569

2000

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Haemophilia A: carrier detection by DNA analysis

Blut, 1988-08, Vol.57 (2), p.85-90

1988

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Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation

Thrombosis research, 2011, Vol.128 (5), p.498-500

2011

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HLA Class I-, Complement C4- and 21-Hydroxylase Probes in the Genetic Analysis of 21-Hydroxylase Deficiency

Clinical chemistry and laboratory medicine, 1990, Vol.28 (6)

1990

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Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

Blood, 1989-08, Vol.74 (3), p.1045-1051

1989

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Erratum to “Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation” [Thrombosis Research 128 (2011) 498–500]

Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation

FXIII deficiency due to base exchange Thr 449 (ACT) --> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding?

Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

Increased nuchal translucency, hydrops fetalis or hygroma colli : A new test strategy for early fetal aneuploidy detection

Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography

Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF–PCR in 662 selected pregnancies at risk

Molecular Defects in Hemophilia A: Identification and Characterization of Mutations in the Factor VIII Gene and Family Analysis

Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes

Die hereditäre Thrombophilie: Fortschritte in der Diagnostik

Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles

A somatic mosaic for haemophilia A detected at the DNA level

Problems in detecting mosaic DNA methylation in Angelman syndrome

Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain

Pseudohomozygous APC Resistance Report on Two Patients and a Novel Mutation in the Factor V Gene

Identical point mutations in the factor VIII gene that have different clinical manifestations of hemophilia A

Pregnancy in a Patient with Congenital Antithrombin Deficiency

Increased Nuchal Translucency, Hydrops fetalis or Hygroma colli

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA

Bleeding Tendency in Factor XI Deficiency: Report on two Families and the Detection of a Novel Mutation within the Factor XI Gene

Falsely increased HbA1c values by HPLC and falsely decreased values by immunoassay lead to identification of Hb Okayama and help in the management of a diabetic patient

Haemophilia A: carrier detection by DNA analysis

Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation

HLA Class I-, Complement C4- and 21-Hydroxylase Probes in the Genetic Analysis of 21-Hydroxylase Deficiency

Molecular defects in hemophilia A: identification and characterization of mutations in the factor VIII gene and family analysis

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