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BMC Pregnancy and Childbirth|May 22, 2008
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. studyElisabeth M A Boormans, Erwin Birnie, Hajo I Wildschut, et al.
European Journal of Human Genetics : EJHG|September 26, 2013
Copy number variants in patients with short statureHermine A van Duyvenvoorde, Julian C Lui, Sarina G Kant, et al.
American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, et al.
Prenatal Diagnosis|June 27, 2021
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register studyMaurike de Groot-van der Mooren, Gert de Graaf, Michel E Weijerman, et al.
Biorxiv : the Preprint Server for Biology|December 9, 2024
An estrogen receptor signaling transcriptional program linked to immune evasion in human hormone receptor-positive breast cancerKenichi Shimada, Daniel E Michaud, Yvonne Xiaoyong Cui, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
Molecular Cancer Therapeutics|April 29, 2025
6-((1,4-naphthoquinone-2-yl)methyl)thio-glucose conjugates, a novel targeted approach for advanced prostate cancerTobias Busenbender, Dmitry N Pelageev, Jessica Hauschild, et al.
Space Science Reviews|September 4, 2025
The Psyche Gamma-Ray and Neutron SpectrometerDavid J Lawrence, John O Goldsten, Patrick N Peplowski, et al.
American Journal of Medical Genetics. Part A|October 24, 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variantsSoha Sewani, Mahshid S Azamian, Bryce A Mendelsohn, et al.
Atherosclerosis|October 2, 2018
A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)Olivier S Descamps, Olivier Van Caenegem, Michel P Hermans, et al.
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