Janneke H M Schuurs-Hoeijmakers

Janneke H M Schuurs-Hoeijmakers

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Janneke H M Schuurs-Hoeijmakers

Janneke H M Schuurs-Hoeijmakers

Publications by authors named "Janneke H M Schuurs-Hoeijmakers"

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Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

Pediatr Rheumatol Online J 2016 May 25;14(1):32. Epub 2016 May 25.

Department of Paediatrics, Radboud University Nijmegen Medical Centre, Radboud umc. Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.

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http://dx.doi.org/10.1186/s12969-016-0093-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880819PMC
May 2016

Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

JAMA Ophthalmol 2014 Aug;132(8):1002-4

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2014.983DOI Listing
August 2014

Clinical significance of de novo and inherited copy-number variation.

Hum Mutat 2013 Dec 10;34(12):1679-87. Epub 2013 Oct 10.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22442DOI Listing
December 2013

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012