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Abbes Ap

12

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Ein Leitfaden zur Diagnose genetischer Defekte als Ursache von Nierenversagen: Eine Literaturübersicht

2011 Nieren-und Hochdruckkrankheiten
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An aid to the diagnosis of genetic disorders underlying adult-onset renal failure: a literature review.

2010 Clinical Nephrology
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Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis

2007 Clinical Chemistry and Laboratory Medicine
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Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0559.

2006 Human Genetics
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Minor disturbances in central nervous system function in familial neurohypophysial diabetes insipidus

2006 Psychoneuroendocrinology
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Gene symbol: AVP. Disease: Diabetes insipidus, neurohypophyseal. Accession #Hm0558.

2006 Human Genetics
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Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis.

2005 Human Genetics
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Central nervous system functions in familial neurohypophysial diabetes insipidus

2004
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Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus.

2000 Clinical Chemistry
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Reliable genotyping of the G-20210-A mutation of coagulation factor II (prothrombin).

1998 Clinical Chemistry
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