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Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|February 13, 2026
Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variantsMatthijs W J de Waal, Sven J van der Lee, Melanie Lunding, et al.Prenatal Diagnosis|October 18, 2016
Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impactDick Oepkes, G C Lieve Page-Christiaens, Caroline J Bax, et al.Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.European Journal of Human Genetics : EJHG|May 16, 2022
Recommendations for whole genome sequencing in diagnostics for rare diseasesErika Souche, Sergi Beltran, Erwin Brosens, et al.American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.Scientific Data|April 14, 2022
FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and researchK Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 10, 2017
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT studyDiane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, et al.American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.Orphanet Journal of Rare Diseases|July 7, 2019
Genomic imbalances defining novel intellectual disability associated lociFátima Lopes, Fátima Torres, Gabriela Soares, et al.Human Mutation|August 21, 2010
Leiden Open Variation Database of the MUTYH geneAstrid A Out, Carli M J Tops, Maartje Nielsen, et al.Pageof 7