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Audiology Research|November 29, 2021
A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature ReviewFrancesca Forli, Luca Bruschini, Beatrice Franciosi, et al.
Children (Basel, Switzerland)|July 27, 2022
New Technological Approach for the Evaluation of Postural Control Abilities in Children with Developmental Coordination DisorderGiada Martini, Elena Beani, Silvia Filogna, et al.
Clinical Chemistry|September 27, 2002
Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficienciesClaudia Carducci, Maurizio Birarelli, Vincenzo Leuzzi, et al.
International Journal of Molecular Sciences|March 13, 2024
NOTCH1-Related Leukoencephalopathy: A Novel Variant and Literature ReviewStefania Della Vecchia, Alessandra Tessa, Rosa Pasquariello, et al.
Genes|June 26, 2026
Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New CasesRoberta Milone, Alessandro Orsini, Gemma Marinella, et al.
JIMD Reports|July 7, 2014
Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrumMaria G Alessandrì, Manuela Casarano, Ilaria Pezzini, et al.
Genes|November 27, 2021
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric PhenotypeRoberta Milone, Raffaella Tancredi, Angela Cosenza, et al.
Child Neurology Open|February 23, 2019
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?Roberta Milone, Riccardo Masson, Caterina Di Cosmo, et al.
Genes|May 25, 2024
Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in <i>SATB1</i>: A New Case Report and Review of the LiteratureFlavia Privitera, Stefano Pagano, Camilla Meossi, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 4, 2005
Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometryClaudia Carducci, Silvia Santagata, Vincenzo Leuzzi, et al.
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