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BMC Pediatrics|March 14, 2020
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature reviewMarcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, et al.Cancer Research|November 3, 2017
Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous MitogensTiziana Servidei, Daniela Meco, Valentina Muto, et al.Archives of Oral Biology|April 30, 2018
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomaliesErsilia Barbato, Alice Traversa, Rosanna Guarnieri, et al.American Journal of Medical Genetics. Part A|June 23, 2021
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypesChiara Leoni, Marta Tedesco, Francesca Clementina Radio, et al.International Journal of Molecular Sciences|December 11, 2022
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary CiliumLucia Ziccardi, Marcello Niceta, Emilia Stellacci, et al.International Journal of Molecular Sciences|March 12, 2020
DNA Methylation Profiling for Diagnosing Undifferentiated Sarcoma with Capicua Transcriptional Receptor (CIC) AlterationsEvelina Miele, Rita De Vito, Andrea Ciolfi, et al.Neurogenetics|April 26, 2018
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genesLorena Travaglini, Chiara Aiello, Fabrizia Stregapede, et al.Cancers|February 12, 2021
Melanotic Neuroectodermal Tumor of Infancy (MNTI) and Pineal Anlage Tumor (PAT) Harbor A Medulloblastoma Signature by DNA Methylation ProfilingOscar Lopez-Nunez, Rita Alaggio, Ivy John, et al.Genes|September 28, 2021
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3Elisabetta Flex, Valentina Imperatore, Giovanna Carpentieri, et al.European Journal of Human Genetics : EJHG|April 14, 2023
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variantsManuela Priolo, Erika Zara, Francesca Clementina Radio, et al.Pageof 12