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A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)PKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinRubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBPCardiomyocytes bind and activate native human prorenin : role of soluble mannose 6-phosphate receptors.Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.Prorenin uptake in the heart: a prerequisite for local angiotensin generation?Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.RFLP for an anonymous single copy clone at 16pter-16p13.1 [D16S127]Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.A CA repeat polymorphism at D11S1383.Prorenin Induces Intracellular Signaling in Cardiomyocytes Independently of Angiotensin IIMutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosisN-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer RegionRapid detection of polymorphism near gene for adult polycystic kidney diseaseExtensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocationsCharacterization of new probes for diagnosis of polycystic kidney disease (PKD1)Improved early diagnosis of adult polycystic kidney disease with flanking DNA markersFunctional importance of angiotensin-converting enzyme-dependent in situ angiotensin II generation in the human forearmCellular localization and tissue distribution of polycystin-1Cardiac aldosterone in subjects with hypertrophic cardiomyopathyComplete FXN deletion in a patient with Friedreich's ataxiaSegmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays77th Scientific Sessions of the American Heart Association
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description
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Jasper J. Saris
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Saris JJ
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Jasper J. Saris
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Jasper J. Saris
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