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Cancers|March 29, 2023
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i>Marzia Ognibene, Marcello Scala, Michele Iacomino, et al.
Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Frontiers in Oncology|April 6, 2026
HLH and spinal neurofibroma: a single case report in a patient with DiGeorge syndromeRamona Tallone, Concetta Micalizzi, Maura Faraci, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Brain : a Journal of Neurology|August 15, 2019
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2Roberta De Mori, Mariasavina Severino, Maria Margherita Mancardi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2024
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorderAndrea Accogli, Young N Park, Guy M Lenk, et al.
Frontiers in Pediatrics|May 16, 2022
A Phenotypic-Driven Approach for the Diagnosis of WOREE SyndromeAntonella Riva, Giulia Nobile, Thea Giacomini, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 12, 2009
Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspectiveMaria Luisa Garrè, Armando Cama, Francesca Bagnasco, et al.
Plos One|October 30, 2014
PDCD10 gene mutations in multiple cerebral cavernous malformationsMaria Sole Cigoli, Francesca Avemaria, Stefano De Benedetti, et al.
Clinical Genetics|September 21, 2024
Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defectsMohammad Sadegh Shams Nosrati, Alireza Doustmohammadi, Mariasavina Severino, et al.
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