Publications by authors named "Phebe N Adama van Scheltema"

10Publications

Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.

Am J Med Genet A 2020 Nov 28. Epub 2020 Nov 28.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.61988DOI Listing
November 2020

Prediction model of postnatal renal function in fetuses with lower urinary tract obstruction (LUTO)-Development and internal validation.

Prenat Diagn 2019 12 28;39(13):1235-1241. Epub 2019 Oct 28.

Department of Obstetrics, Gynaecology and Prenatal Diagnosis, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/pd.5573DOI Listing
December 2019

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy.

Fetal Diagn Ther 2019 17;45(3):155-161. Epub 2018 May 17.

Department of Obstetrics, Gynecology and Prenatal Diagnosis, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1159/000488282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6482981PMC
July 2019

Successful noninvasive trisomy 18 detection using single molecule sequencing.

Clin Chem 2013 Apr 11;59(4):705-9. Epub 2013 Jan 11.

Department of Clinical Genetics, Laboratory for Diagnostic Genome Analysis (LDGA), Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1373/clinchem.2012.196212DOI Listing
April 2013

Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detection.

Clin Chem 2012 Apr 25;58(4):699-706. Epub 2012 Jan 25.

Center for Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1373/clinchem.2011.174698DOI Listing
April 2012