Irene Stolte-Dijkstra

Irene Stolte-Dijkstra

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Irene Stolte-Dijkstra

Irene Stolte-Dijkstra

Publications by authors named "Irene Stolte-Dijkstra"

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22Publications

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Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.

Am J Med Genet A 2018 06 25;176(6):1455-1462. Epub 2018 Apr 25.

Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38667DOI Listing
June 2018

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

J Med Genet 2012 May;49(5):307-13

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-100778DOI Listing
May 2012

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Nat Genet 2012 Feb 5;44(3):277-84. Epub 2012 Feb 5.

Centre for Rare Diseases and Personalised Medicine, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, UK.

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http://dx.doi.org/10.1038/ng.1071DOI Listing
February 2012

Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Nat Genet 2004 Dec 14;36(12):1301-5. Epub 2004 Nov 14.

Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/ng1475DOI Listing
December 2004