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Human Molecular Genetics|December 1, 1995
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinismM V Schiaffino, M T Bassi, L Galli, et al.Toxics|August 25, 2022
Antibiotics in Raw Meat Samples: Estimation of Dietary Exposure and Risk AssessmentAthina Stavroulaki, Manolis N Tzatzarakis, Vasiliki Karzi, et al.Acta Neurochirurgica|July 10, 2020
Development of machine learning models to prognosticate chronic shunt-dependent hydrocephalus after aneurysmal subarachnoid hemorrhageGiovanni Muscas, Tommaso Matteuzzi, Eleonora Becattini, et al.Genes|August 26, 2023
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature ReviewLuisa Ronzoni, Matteo Mureddu, Francesco Malvestiti, et al.International Journal of Molecular Medicine|September 13, 2021
Reversal of brain aging by targeting telomerase: A nutraceutical approachDimitris Tsoukalas, Ana Maria Buga, Anca Oana Docea, et al.World Academy of Sciences Journal|April 30, 2020
Overview of the effects of chemical mixtures with endocrine disrupting activity in the context of real-life risk simulation: An integrative approach (Review)Denisa Margina, George Mihai Nițulescu, Anca Ungurianu, et al.Journal of the Neurological Sciences|October 21, 2015
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technologyChiara Fallerini, Giulia Carignani, Giorgio Capoccitti, et al.Cells|April 13, 2023
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2-Related Neural Disorder: A Possible New Cell-Based Disease ModelSura Hilal Ahmed Al Sammarraie, Domenico Aprile, Ilaria Meloni, et al.Journal of Vascular Surgery. Venous and Lymphatic Disorders|August 29, 2020
MET somatic activating mutations are responsible for lymphovenous malformation and can be identified using cell-free DNA next generation sequencing liquid biopsyMaria Palmieri, Laura Di Sarno, Andrea Tommasi, et al.European Journal of Human Genetics : EJHG|April 8, 2004
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangementsIlaria Longo, Luisa Russo, Ilaria Meloni, et al.Pageof 63