Jolien S Wassink-Ruiter

Jolien S Klein Wassink-Ruiter

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Jolien S Wassink-Ruiter

Jolien S Klein Wassink-Ruiter

Publications by authors named "Jolien S Klein Wassink-Ruiter"

14Publications

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1PubMed Central Citations

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Genet Med 2019 Oct 3. Epub 2019 Oct 3.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-019-0657-0DOI Listing
October 2019

Diagnosis of hepatocellular adenoma in men before onset of diabetes in HNF1A-MODY: Watch out for winkers.

Liver Int 2019 Sep 4. Epub 2019 Sep 4.

Department of Surgery, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1111/liv.14235DOI Listing
September 2019

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Am J Hum Genet 2019 May 25;104(5):815-834. Epub 2019 Apr 25.

CHU-Sainte Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507050PMC
May 2019

Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

Acta Ophthalmol 2014 May 7;92(3):276-81. Epub 2013 Jun 7.

Department of Ophthalmology, University of Groningen, University Medical Center Groningen, Groningen, The NetherlandsDepartment of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The NetherlandsDepartment of Biomedical Sciences Center of Excellence for Neuroscience, Foster School of Medicine, Texas Tech Health Sciences Center, El Paso, Texas, USA.

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http://doi.wiley.com/10.1111/aos.12105
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http://dx.doi.org/10.1111/aos.12105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773268PMC
May 2014