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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances

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DOI

  1. Corrigendum for Hartwig TS, Sørensen S and Jørgensen FS (2016) https://doi.org/10.1002/pd.4833

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Correlation between Z score, fetal fraction, and sequencing reads in non-invasive prenatal testing

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  3. The length of Y-chromosomal sequence reads in non-invasive prenatal testing reflect allogeneic bone marrow transplant

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  4. Discordant Non-Invasive Prenatal Testing (NIPT) - a systematic review

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  1. Mortality and morbidity of major congenital heart disease related to general prenatal screening for malformations

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  2. Targeted Rhesus immunoglobulin for RhD negative women undergoing an induced abortion: a clinical pilot study

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  3. Neurodevelopmental disorder in children believed to have isolated mild ventriculomegaly prenatally

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  4. Outcomes of monoamniotic twin pregnancies managed primarily in outpatient care-A Danish multicenter study

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  5. New intrauterine shunt for treatment of fetal fluid accumulation: single-center experience of first 17 cases

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The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader-Willi/Angelman, Miller-Dieker, Smith-Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting.
Original languageEnglish
JournalPrenatal Diagnosis
Volume30
Issue number10
Pages (from-to)995-9
Number of pages5
ISSN0197-3851
DOIs
Publication statusPublished - 1 Oct 2010

ID: 32201347