Genetic Counseling in Retinitis Pigmentosa
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Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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A Child with Arthrogryposis
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018
Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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