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European Journal of Medical Genetics|July 23, 2019
BCAP31-related syndrome: The first de novo reportBerardo Rinaldi, Evelien Van Hoof, Anniek Corveleyn, et al.
Endocrinology, Diabetes & Metabolism Case Reports|September 29, 2024
A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduriaSaohoine Inthasot, Julien Vanderhulst, Peter Janssens, et al.
Lung|April 11, 2024
Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center StudyNoelia Rodriguez Mier, Martine Jaspers, Evelien Van Hoof, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2017
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequenceLore Winters, Evelien Van Hoof, Luc De Catte, et al.
European Journal of Medical Genetics|February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant associationBerardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 21, 2021
Guidelines for Genetic Testing and Management of Alport SyndromeJudy Savige, Beata S Lipska-Zietkiewicz, Elizabeth Watson, et al.
European Journal of Human Genetics : EJHG|April 15, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
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