Showing results (11-20 of 28) with videos related to
Sort By:
Pageof 3
Scientific Reports|January 3, 2024
The impact of intersectional racial and gender biases on minority female leadership over two centuriesGanna Pogrebna, Spyros Angelopoulos, Immaculate Motsi-Omoijiade, et al.Journal of Community Genetics|November 22, 2022
Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare serviceMayla A A Dantas, Jorge Diogo Da Silva, Nataliya Tkachenko, et al.Genetics in Medicine Open|December 13, 2024
Establishing an objective clinical spectrum, genotype-phenotype correlations, and <i>CRMP1</i> as a modifier in the Ellis-van Creveld syndrome: The first systematic review of <i>EVC-</i> and <i>EVC2</i>-associated conditionsJorge Diogo Da Silva, Ana Rita Soares, Ana Maria Fortuna, et al.Journal of Medical Genetics|February 16, 2025
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregatingJorge Diogo Da Silva, Nuno Maia, Paula Jorge, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 22, 2023
An SPG7 mutation as a novel cause of monogenic progressive muscular atrophyÂngela Pereira, Nataliya Tkachenko, Ana Maria Fortuna, et al.Scientific Data|July 15, 2025
A Field-Level Asset Mapping Dataset for England's Agricultural SectorHassan Aftab Sheikh, Alok Singh, Neetu Kushwaha, et al.Pediatric Neurology|January 18, 2016
Establishing a Role for Polysomnography in Hospitalized ChildrenNataliya Tkachenko, Kanwaljit Singh, Nicolas Abreu, et al.Biomedicines|December 23, 2022
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small MicroduplicationJorge Diogo Da Silva, Diana Gonzaga, Ana Barreta, et al.Biomedicines|January 21, 2023
A Novel Frameshift <i>CHD4</i> Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)Jorge Diogo Da Silva, Natália Oliva-Teles, Nataliya Tkachenko, et al.Sleep Medicine|April 23, 2018
Prevalence and characteristics of sleep-disordered breathing in familial dysautonomiaKanwaljit Singh, Jose-Alberto Palma, Horacio Kaufmann, et al.Pageof 3