Showing results (221-230 of 358) with videos related to

Sort By:
Pageof 36
Cerebellum (London, England)|November 30, 2021
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome SequencingFulvio D'Abrusco, Filippo Arrigoni, Valentina Serpieri, et al.
International Journal of Molecular Sciences|January 10, 2026
NLRP3 Inflammasome as Potential Predictor of Non-Responsiveness to Immunosuppressive Treatment in Lupus NephritisCamila Barbosa Lyra de Oliveira, Werbson Lima Guaraná, Gisele Vajgel, et al.
Orphanet Journal of Rare Diseases|June 3, 2014
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndromeMarta Romani, Alessia Micalizzi, Ichraf Kraoua, et al.
HGG Advances|April 19, 2025
Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophiesDalila Capasso, Roberta Zeuli, Gavin Arno, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 19, 2013
The syndrome of deafness-dystonia: clinical and genetic heterogeneityMaja Kojovic, Isabel Pareés, Tania Lampreia, et al.
Clinical Genetics|April 10, 2023
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, et al.
Orphanet Journal of Rare Diseases|May 18, 2013
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletionsAlessandro Ferraris, Laura Bernardini, Vesna Sabolic Avramovska, et al.
Reviews in Medical Virology|May 6, 2022
The relationship between chikungunya virus and the kidneys: A scoping reviewDenise Maria do Nascimento Costa, Pedro Alves da Cruz Gouveia, Gyl Eanes de Barros Silva, et al.
NPJ Parkinson'S Disease|September 25, 2025
Independent serum metabolomics approaches identify disrupted glutamic acid and serine metabolism in Parkinson's disease patientsJacopo Gervasoni, Carmen Marino, Alberto Imarisio, et al.
Annals of Neurology|March 27, 2022
An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger DomainCole A Deisseroth, Vanesa C Lerma, Christina L Magyar, et al.
Pageof 36