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European Journal of Ophthalmology|April 22, 2020
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two casesSonia De Francesco, Arianna Sgheri, Alessandro Di Maggio, et al.
Molecular Syndromology|December 6, 2011
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta SyndromeM F Bedeschi, L Colombo, F Mari, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 16, 2019
Small vessel disease and clinical outcomes after endovascular treatment in acute ischemic strokeFrancesco Arba, Giuseppe Dario Testa, Nicola Limbucci, et al.
Updates in Surgery|November 22, 2023
The impact of obesity on thyroidectomy outcomes: a case-matched studyLeonardo Rossi, Chiara Becucci, Mattia Iachini, et al.
Human Molecular Genetics|April 23, 2024
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1AAniket Bhattacharya, Paola Parlanti, Luca Cavallo, et al.
European Journal of Medical Genetics|November 21, 2020
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotypeAurora Currò, Gabriella Doddato, Mirella Bruttini, et al.
Journal of Human Genetics|December 17, 2010
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutationsKinga Hadzsiev, Noemi Polgar, Judit Bene, et al.
Journal of Submicroscopic Cytology and Pathology|October 1, 1991
Studies on varicocele. 1. Submicroscopical and endocrinological featuresB Baccetti, A G Burrini, S Capitani, et al.
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