The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Autor: Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ea.ashaat@nrc.sci.eg., Ahmed HA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Fayez A; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Metwally AM; Community Medicine Research Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt., Mekkawy MK; Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hussen DF; Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ashaat NA; Human Genetics, Ain Shams University, Cairo, Egypt., Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., ElAwady HA; Pediatrics Department, Fayoum University Hospitals, Faiyum, Egypt., Abdelgawad RHA; Ophthalmology Department, Ain Shams University, Cairo, Egypt., Gammal ME; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Al Kersh MA; Orthopedic Department, Ain Shams University, Cairo, Egypt., Saleh DA; Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Publikováno v: Molecular neurobiology [Mol Neurobiol] 2024 Aug; Vol. 61 (8), pp. 4949-4961. Date of Electronic Publication: 2023 Dec 28.