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List of works by Jasper J. Saris

77th Scientific Sessions of the American Heart Association

A CA repeat polymorphism at D11S1383.

scientific article published in March 1994

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)

scientific article

Cardiac aldosterone in subjects with hypertrophic cardiomyopathy

scientific article published on 01 December 2006

Cardiomyocytes bind and activate native human prorenin : role of soluble mannose 6-phosphate receptors.

scientific article

Cellular localization and tissue distribution of polycystin-1

scientific article published on 01 August 1999

Characterization of new probes for diagnosis of polycystic kidney disease (PKD1)

scientific article published on 01 January 1989

Complete FXN deletion in a patient with Friedreich's ataxia

scientific article published on 12 June 2012

Extensive cross-homology between the long and the short arm of chromosome 16 may explain leukemic inversions and translocations

scientific article published on 01 March 1992

Functional importance of angiotensin-converting enzyme-dependent in situ angiotensin II generation in the human forearm

scientific article published on 01 March 2000

Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers

scientific article published on 01 December 1987

Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1)

scientific article

Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis

scientific article published on 31 October 2018

Mutation Detection in the Repeated Part of the PKD1 Gene ⬇️

scientific article published on November 1, 1997

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

scientific article published in Scientific Reports

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

scientific article published on 22 June 2016

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

scientific article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

scientific article published on September 2015

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

scientific article

Prorenin Induces Intracellular Signaling in Cardiomyocytes Independently of Angiotensin II

scientific article published on 28 August 2006

Prorenin uptake in the heart: a prerequisite for local angiotensin generation?

scientific article

RFLP for an anonymous single copy clone at 16pter-16p13.1 [D16S127]

scientific article published on July 1989

Rapid detection of polymorphism near gene for adult polycystic kidney disease

article

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

scientific article

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

scientific article

Search for the gene responsible for polycystic kidney disease and its clinical consequences

scientific article published on January 1, 1992

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

scientific article

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