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Proceedings of the National Academy of Sciences of the United States of America|December 30, 2022
Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomeliaTiffany Y K Au, Raymond K H Yip, Sarah L Wynn, et al.Health and Social Care Delivery Research|April 29, 2026
Optimising rapid prenatal exome sequencing in the NHS genomic medicine service: the EXPRESS SynopsisMelissa Hill, Michelle Peter, Morgan Daniel, et al.Proceedings of the National Academy of Sciences of the United States of America|November 7, 2022
SOX9 and SOX10 control fluid homeostasis in the inner ear for hearing through independent and cooperative mechanismsIrene Y Y Szeto, Daniel K H Chu, Peikai Chen, et al.Psychiatric Genetics|February 13, 2025
Unresolved ethical issues of genetic counseling and testing in clinical psychiatryJulia Perry, Eline Bunnik, Marcella Rietschel, et al.Journal of Medical Genetics|September 26, 2024
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable accessSian Ellard, Sian Morgan, Sarah L Wynn, et al.Prenatal Diagnosis|March 5, 2024
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health ServiceHannah McInnes-Dean, Rhiannon Mellis, Morgan Daniel, et al.American Journal of Medical Genetics. Part A|June 23, 2015
Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significanceJohn C K Barber, Jill A Rosenfeld, John M Graham, et al.NIHR Open Research|October 25, 2023
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine ServiceMelissa Hill, Sian Ellard, Jane Fisher, et al.Journal of Community Genetics|July 1, 2026
Rare disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025Angus Clarke, Ruth Horn, Elena Avram, et al.Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.Pageof 2