Karin E Diderich

Karin E M Diderich

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Karin E Diderich

Karin E M Diderich

Publications by authors named "Karin E M Diderich"

18Publications

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1PubMed Central Citations

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.

Am J Med Genet A 2017 Apr 6;173(4):1047-1050. Epub 2017 Mar 6.

Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38135DOI Listing
April 2017

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

Genet Med 2016 Apr 9;18(4):307-8. Epub 2015 Jul 9.

Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/gim.2015.95DOI Listing
April 2016

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

Accelerated bone aging in the trichothiodystrophy mouse model.

J Gerontol A Biol Sci Med Sci 2003 Nov;58(11):969

Department of Cell Biology & Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1093/gerona/58.11.b969DOI Listing
November 2003