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European Journal of Human Genetics : EJHG|August 10, 2018
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63Ashley P L Marsh, Gaia Novarino, Paul J Lockhart, et al.
European Journal of Medical Genetics|July 31, 2010
De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic featuresZornitza Stark, Damien L Bruno, Hayley Mountford, et al.
Neurology. Genetics|September 1, 2022
<i>RFC1</i>-Related Disease: Molecular and Clinical InsightsKayli Davies, David J Szmulewicz, Louise A Corben, et al.
Molecular Genetics and Metabolism|March 1, 2024
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatmentSarah Donoghue, Jordan Wright, Anne K Voss, et al.
European Journal of Medical Genetics|October 5, 2019
Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literatureChloe A Stutterd, David Francis, George McGillivray, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 18, 2020
Clinical and Neuropathological Features Associated With Loss of RAB39BYujing Gao, Verónica Martínez-Cerdeño, Kirk J Hogan, et al.
Emerging Topics in Life Sciences|October 27, 2023
Challenges facing repeat expansion identification, characterisation, and the pathway to discoveryJustin L Read, Kayli C Davies, Genevieve C Thompson, et al.
Human Molecular Genetics|October 2, 2003
RING finger 1 mutations in Parkin produce altered localization of the proteinMark R Cookson, Paul J Lockhart, Chris McLendon, et al.
Parkinsonism & Related Disorders|April 5, 2008
Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese populationJuliet M Taylor, Ruey-Meei Wu, Chin-Hsien Lin, et al.
Brain Research|February 26, 2008
Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brainKate M Brody, Juliet M Taylor, Gabrielle R Wilson, et al.
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