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Acta Neuropathologica Communications|December 6, 2014
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeArthur B McKie, Atif Alsaedi, Julie Vogt, et al.European Journal of Human Genetics : EJHG|January 17, 2013
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findingsEllen A Croonen, Willy M Nillesen, Kyra E Stuurman, et al.The Journal of Clinical Endocrinology and Metabolism|November 3, 2020
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case SeriesFerdy S van Geest, Marcel E Meima, Kyra E Stuurman, et al.Journal of Genetic Counseling|September 3, 2022
The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot studyYil Severijns, Maartje W F Heijmans, Christine E M de Die-Smulders, et al.Nature|August 20, 2025
A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasiaJean Jacobs, Hristiana Lyubenova, Sven Potelle, et al.Clinical Genetics|June 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A VariantsEvan Burchfiel, Xiaonan Zhao, Nichole M Owen, et al.Clinical Genetics|April 9, 2020
Primrose syndrome: Characterization of the phenotype in 42 patientsDaniela Melis, Daniel Carvalho, Tina Barbaro-Dieber, et al.Genes|August 27, 2021
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG CriteriaPleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, et al.Prenatal Diagnosis|September 24, 2025
Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective StudyAdriana I Iglesias, Diane Van Opstal, Florentine F Thurik, et al.Prenatal Diagnosis|September 30, 2024
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound AnomaliesKarin E M Diderich, Hennie T Bruggenwirth, Marieke Joosten, et al.Pageof 3