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BMC Pediatrics|December 24, 2022
New insights on Noonan syndrome's clinical phenotype: a single center retrospective studyFrancesco Baldo, Alice Fachin, Beatrice Da Re, et al.
Gene|May 20, 2014
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfectaElisa Rubinato, Anna Morgan, Angela D'Eustacchio, et al.
Audiology Research|December 22, 2023
Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric DisordersPaola Tesolin, Aurora Santin, Anna Morgan, et al.
Biomedicines|September 27, 2025
Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing AssaysLara Emily Rosso, Giulia Pianigiani, Anna Morgan, et al.
European Journal of Medical Genetics|September 20, 2019
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature reviewElisa Rubinato, Sophie Rondeau, Fabienne Giuliano, et al.
Genes|November 11, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical PicturesBeatrice Spedicati, Anna Morgan, Giulia Pianigiani, et al.
Biomedicines|March 29, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian PopulationBeatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone, et al.
Genes|October 23, 2021
Pendred Syndrome, or Not Pendred Syndrome? That Is the QuestionPaola Tesolin, Sofia Fiorino, Stefania Lenarduzzi, et al.
Frontiers in Pediatrics|August 22, 2022
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case reportThomas Caiffa, Antimo Tessitore, Loira Leoni, et al.
European Journal of Human Genetics : EJHG|October 21, 2018
TBL1Y: a new gene involved in syndromic hearing lossMariateresa Di Stazio, Chiara Collesi, Diego Vozzi, et al.
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