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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Journal of cystic fibrosis, 2008-05, Vol.7 (3), p.179-196

2008

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Recommendations for the classification of diseases as CFTR-related disorders

Journal of cystic fibrosis, 2011-06, Vol.10, p.S86-S102

2011

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The interplay of chronic stress and genetic traits discriminates between patients suffering from multisomatoform disorder with pain as the leading symptom and matched controls

Journal of affective disorders, 2022-07, Vol.308, p.466-472

2022

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Aortic dissecting aneurysms—Histopathological findings

Forensic science international, 2012-01, Vol.214 (1), p.13-17

2012

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Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

Clinical genetics, 2012-09, Vol.82 (3), p.240-247

2012

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Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome

Molecular psychiatry, 2007-07, Vol.12 (7), p.617-619

2007

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Tumor vascularity of breast lesions: potentials and limits of contrast-enhanced Doppler sonography

American journal of roentgenology (1976), 2000-12, Vol.175 (6), p.1585-1589

2000

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Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Clinical genetics, 2008-06, Vol.73 (6), p.566-572

2008

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Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients

Transplant infectious disease, 2014-10, Vol.16 (5), p.783-789

2014

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CFTR gene mutations and male infertility

Andrologia, 2000-03, Vol.32 (2), p.71-83

2000

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Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

The American journal of gastroenterology, 2000, Vol.95 (8), p.2061-2067

2000

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Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

The American journal of gastroenterology, 2000-08, Vol.95 (8), p.2061-2067

2000

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Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Journal of the European Academy of Dermatology and Venereology, 2006-05, Vol.20 (5), p.628-629

2006

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Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis

Klinische Padiatrie, 2010-07, Vol.222 (4), p.261

2010

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Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

Clinical genetics, 2008-08, Vol.74 (2), p.171-177

2008

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Mukoviszidose – eine pleiotrope Ionenkanalerkrankung mit wesentlicher Lungenbeteiligung

Medizinische Genetik, 2013-12, Vol.25 (4), p.486-492

2013

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A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene

Molecular and cellular probes, 1999-08, Vol.13 (4), p.321-323

1999

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Digenic mutations in severe congenital neutropenia

Haematologica (Roma), 2010-07, Vol.95 (7), p.1207-1210

2010

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Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

Journal of medical genetics, 2001-04, Vol.38 (4), p.243-244

2001

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Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

Haematologica (Roma), 2010-02, Vol.95 (2), p.320-323

2010

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Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice

Archives of gynecology and obstetrics, 2008-02, Vol.277 (2), p.155-160

2008

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Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis

Clinical genetics, 2005-06, Vol.67 (6), p.529-531

2005

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The β-defensin region affects CF lung disease severity

Journal of cystic fibrosis, 2008-06, Vol.7, p.S1-S1

2008

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The cannabinoid receptor gene (CNR1) is not affected in German i.v. drug users

Addiction biology, 2001-04, Vol.6 (2), p.183-187

2001

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

Recommendations for the classification of diseases as CFTR-related disorders

The interplay of chronic stress and genetic traits discriminates between patients suffering from multisomatoform disorder with pain as the leading symptom and matched controls

Aortic dissecting aneurysms—Histopathological findings

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome

Tumor vascularity of breast lesions: potentials and limits of contrast-enhanced Doppler sonography

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients

CFTR gene mutations and male infertility

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Neonatal Marfan syndrome: unusually large deletion of exons 24-26 of FBN1 associated with poor prognosis

Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia

Mukoviszidose – eine pleiotrope Ionenkanalerkrankung mit wesentlicher Lungenbeteiligung

A frequent polymorphism in the coding exon of the human cannabinoid receptor (CNR1) gene

Digenic mutations in severe congenital neutropenia

Low prevalence of SPINK1 gene mutations in adult patients with chronic idiopathic pancreatitis

Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this Cystic Fibrosis Transmembrane Conductance Regulator mutation does not cause cystic fibrosis

The β-defensin region affects CF lung disease severity

The cannabinoid receptor gene (CNR1) is not affected in German i.v. drug users

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