Klaske D Lichtenbelt

Klaske D Lichtenbelt

UNVERIFIED PROFILE

Are you Klaske D Lichtenbelt?   Register this Author

Register author
Klaske D Lichtenbelt

Klaske D Lichtenbelt

Publications by authors named "Klaske D Lichtenbelt"

Are you Klaske D Lichtenbelt?   Register this Author

25Publications

808Reads

21Profile Views

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.

J Genet Couns 2017 Dec 30;26(6):1348-1356. Epub 2017 Jun 30.

Department of Clinical Genetics, Section Community Genetics and Amsterdam Public Health Research Institute, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-017-0118-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672853PMC
December 2017

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-women's perspectives.

Prenat Diagn 2016 Dec 16;36(12):1091-1098. Epub 2016 Nov 16.

Department of Clinical Genetics, Section Community Genetics and EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5213994PMC
December 2016

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Am J Med Genet A 2015 Sep 31;167A(9):1983-92. Epub 2015 May 31.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37154DOI Listing
September 2015

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.

Neurology 2015 May 17;84(20):2092-3. Epub 2015 Apr 17.

From Academic Medical Center (W.F.W., P.J.N., A.E.H.), Amsterdam, the Netherlands; National Institutes of Health (I.A.), National Human Genome Research Institute, Bethesda, MD; and University Medical Center Utrecht (K.D.L., K.P.J.B.), the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442100PMC
May 2015

Factors determining uptake of invasive testing following first-trimester combined testing.

Prenat Diagn 2013 Apr 18;33(4):328-33. Epub 2013 Feb 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.4067
Publisher Site
http://dx.doi.org/10.1002/pd.4067DOI Listing
April 2013

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Am J Med Genet A 2012 Jan 21;158A(1):166-73. Epub 2011 Nov 21.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34350DOI Listing
January 2012

Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000-2009.

Prenat Diagn 2011 Aug 21;31(8):765-72. Epub 2011 Jun 21.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2764DOI Listing
August 2011