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UnknownGenetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.
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S-EPMC6719047 | biostudies-literature
UnknownCharacterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.
Not available
S-EPMC6687651 | biostudies-literature
UnknownThe utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Not available
S-EPMC5613000 | biostudies-literature
UnknownTranscriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.
Not available
S-EPMC4686057 | biostudies-literature
UnknownMitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Not available
S-EPMC8844575 | biostudies-literature
UnknownPhosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Not available
S-EPMC4623922 | biostudies-literature
UnknownA training plan to implement lung ultrasound for diagnosing pneumonia in children.
Not available
S-EPMC9586858 | biostudies-literature
UnknownExpanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Not available
S-EPMC10579479 | biostudies-literature
UnknownVirtual Reality Body Exposure Therapy for Anorexia Nervosa. A Case Report With Follow-Up Results.
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S-EPMC7242758 | biostudies-literature
UnknownGene module regulation in dilated cardiomyopathy and the role of Na/K-ATPase.
Not available
S-EPMC9333241 | biostudies-literature
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