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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Feasibilty study on the use of methylation-specific MLPA for the 11p15 region on prenatal samples

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

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

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  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. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

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  3. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

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  4. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

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Original languageEnglish
JournalPrenatal Diagnosis
Volume36
Issue number1
Pages (from-to)100-103
ISSN0197-3851
DOIs
Publication statusPublished - 2016

ID: 45841777