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Journal of Proteomics|March 3, 2011
Protein profiling underscores immunological functions of uterine cervical mucus plug in human pregnancyDeug-Chan Lee, Sonia S Hassan, Roberto Romero, et al.
European Journal of Human Genetics : EJHG|March 31, 2026
Short-read genome sequencing at population scale: diagnostic insights from 2317 patientsSøren L Faergeman, Lotte Andreasen, Naja Becher, et al.
Ugeskrift for Laeger|May 13, 2025
[Genetics in fetal medicine]Simon Horsholt Thomsen, Tina Duelund Hjortshøj, Malou Barbosa, et al.
European Journal of Medical Genetics|July 1, 2018
Is MED13L-related intellectual disability a recognizable syndrome?Pernille Mathiesen Tørring, Martin Jakob Larsen, Charlotte Brasch-Andersen, et al.
Prenatal Diagnosis|March 23, 2025
Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public HealthcareIda Vogel, Lotte Andreasen, Marie Balslev-Harder, et al.
European Journal of Medical Genetics|July 6, 2021
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, et al.
Prenatal Diagnosis|May 18, 2023
How does cell-based non-invasive prenatal test (NIPT) perform against chorionic villus sampling and cell-free NIPT in detecting trisomies and copy number variations? A clinical study from DenmarkLotte Hatt, Katarina Ravn, Line Dahl Jeppesen, et al.
European Journal of Human Genetics : EJHG|July 19, 2025
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelinesSusan M White, Annelotte P Wondergem, Isa Breet, et al.
European Journal of Human Genetics : EJHG|November 19, 2015
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionalsMelissa Hill, Jo-Ann Johnson, Sylvie Langlois, et al.
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