Found: 24
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Vascular endothelial growth factor A polymorphism and risk of Kaposi's sarcoma herpesvirus viremia in kidney allograft recipients.
- Published in:
- Transplant Infectious Disease, 2014, v. 16, n. 5, p. 783, doi. 10.1111/tid.12277
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- Publication type:
- Article
Mukoviszidose - eine pleiotrope Ionenkanalerkrankung mit wesentlicher Lungenbeteiligung.
- Published in:
- Medizinische Genetik, 2013, v. 25, n. 4, p. 486, doi. 10.1007/s11825-013-0417-5
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- Article
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome.
- Published in:
- Clinical Genetics, 2012, v. 82, n. 3, p. 240, doi. 10.1111/j.1399-0004.2011.01771.x
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- Publication type:
- Article
Orphanet – das europäische Portal für seltene Krankheiten.
- Published in:
- Medizinische Genetik, 2010, v. 22, n. 2, p. 213, doi. 10.1007/s11825-010-0219-y
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- Publication type:
- Article
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 2, p. 171, doi. 10.1111/j.1399-0004.2008.01029.x
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- Publication type:
- Article
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 6, p. 566, doi. 10.1111/j.1399-0004.2008.01000.x
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- Publication type:
- Article
Prenatal diagnosis of the Rhesus D fetal blood type on amniotic fluid in daily practice.
- Published in:
- Archives of Gynecology & Obstetrics, 2008, v. 277, n. 2, p. 155, doi. 10.1007/s00404-007-0437-y
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- Publication type:
- Article
Role of the novel tryptophan hydroxylase-2 gene in Tourette syndrome.
- Published in:
- 2007
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- Publication type:
- Letter
Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family.
- Published in:
- 2006
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- Publication type:
- Letter
Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that thisCystic Fibrosis Transmembrane Conductance Regulatormutation does not cause cystic fibrosis.
- Published in:
- 2005
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- Publication type:
- Letter
Molekulargenetische Grundlagen der zystischen Fibrose als Beispiel genetischer Erkrankungen in der Pneumologie.
- Published in:
- Der Internist, 2003, v. 44, p. S7
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- Publication type:
- Article
The beta-globin genotype E121Q/W15X (cd121GAA-->CAA/cd15TGG-->TGA) underlines Hb d/beta-(0) thalassaemia marked by domination of haemoglobin D.
- Published in:
- 2001
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- Publication type:
- journal article
The β-globin genotype E121Q/W15X (cd121GAA→CAA/cd15TGG→TGA) underlines Hb D/β-(0) thalassaemia marked by domination of haemoglobin D.
- Published in:
- Annals of Hematology, 2001, v. 80, n. 11, p. 629, doi. 10.1007/s002770100376
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- Publication type:
- Article
The cannabinoid receptor gene (CNR1) is not affected in German i.v. drug users.
- Published in:
- Addiction Biology, 2001, v. 6, n. 2, p. 183, doi. 10.1080/13556210020040271
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- Publication type:
- Article
Familial thrombocytosis as a recessive, possibly X-linked trait in an Arab family.
- Published in:
- British Journal of Haematology, 2001, v. 112, n. 3, p. 616, doi. 10.1046/j.1365-2141.2001.02565.x
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- Publication type:
- Article
Mutation screening for prenatal and presymptomatic diagnosis: cystic fibrosis and haemochromatosis.
- Published in:
- 2000
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- Publication type:
- journal article
Mutations of the Cystic Fibrosis Gene, But Not Cationic Trypsinogen Gene, Are Associated With Recurrent or Chronic Idiopathic Pancreatitis.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2000, v. 95, n. 8, p. 2061, doi. 10.1111/j.1572-0241.2000.02228.x
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- Publication type:
- Article
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria.
- Published in:
- Pediatric Nephrology, 2000, v. 14, n. 5, p. 376, doi. 10.1007/s004670050778
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- Publication type:
- Article
Hämochromatose - eine lebensbedrohliche Erkrankung mit einfacher Diagnose und Therapie.
- Published in:
- Journal of Laboratory Medicine / Laboratoriums Medizin, 2000, v. 24, n. 5, p. 229
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- Publication type:
- Article
Mukoviszidose Auch eine Erkrankung des Erwachsenenalters?
- Published in:
- Der Internist, 1999, v. 40, n. 5, p. 476, doi. 10.1007/s001080050361
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- Publication type:
- Article
Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency).
- Published in:
- 1998
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- Publication type:
- journal article
Detection of 100% of the CFTR mutations in 63 CF families from Tyrol.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 4, p. 240, doi. 10.1111/j.1399-0004.1997.tb02555.x
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- Publication type:
- Article
Site factors, foliar nutrient levels and growth of Cordia alliodora plantations in the humid lowlands of northern Costa Rica
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- Plant & Soil, 1994, v. 166, n. 2, p. 193
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- Publication type:
- Article
Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families.
- Published in:
- Clinical Genetics, 1989, v. 36, n. 2, p. 117, doi. 10.1111/j.1399-0004.1989.tb03173.x
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- Publication type:
- Article