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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.
Molecular Neurobiology|June 7, 2012
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patientsAsma Tlili, Alexander Hoischen, Clémentine Ripoll, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Phenotypic and molecular insights into CASK-related disorders in malesUte Moog, Tatjana Bierhals, Kristina Brand, et al.
European Journal of Human Genetics : EJHG|April 7, 2023
Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited allelesIlse Parijs, Nathalie Brison, Leen Vancoillie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2012
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patientsSarah Vergult, A Jeannette M Hoogeboom, Emilia K Bijlsma, et al.
Virchows Archiv : an International Journal of Pathology|January 16, 2022
Shallow whole-genome sequencing: a useful, easy to apply molecular technique for CNA detection on FFPE tumor tissue-a glioma-driven studyKim Van der Eecken, Malaïka Van der Linden, Lennart Raman, et al.
Oncotarget|March 2, 2018
The mutational landscape of MYCN, Lin28b and ALK driven murine neuroblastoma mimics human diseaseBram De Wilde, Anneleen Beckers, Sven Lindner, et al.
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