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Iscience|October 25, 2022
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cellsEmanuela Marchese, Marianna Caterino, Davide Viggiano, et al.Clinical Kidney Journal|June 4, 2021
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patientsMiriam Zacchia, Francesca Del Vecchio Blanco, Annalaura Torella, et al.Genes|March 29, 2023
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV NephropathiesMiriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco, et al.Journal of Nephrology|May 8, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutationMiriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, et al.Genes|August 3, 2019
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous DisordersTeresa Giugliano, Claudia Santoro, Annalaura Torella, et al.Hormone Research in Paediatrics|October 27, 2016
Multiplex Ligation-Dependent Probe Amplification Accurately Detects Turner Syndrome in Girls with Short StatureAnna Grandone, Francesca Del Vecchio Blanco, Annalaura Torella, et al.Nature Communications|May 15, 2023
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndromeIrene Sambri, Marco Ferniani, Giulia Campostrini, et al.Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.Pageof 3