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A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. [electronic resource] by
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Ocular albinism: evidence for a defect in an intracellular signal transduction system. [electronic resource] by
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A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. [electronic resource] by
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EUS-guided biliary drainage with placement of a new partially covered biliary stent for palliation of malignant biliary obstruction: a case series. [electronic resource] by
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SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. [electronic resource] by
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Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. [electronic resource] by
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Endoscopic resection as a safe and effective technique for treatment of pedunculated and non-pedunculated benign-appearing colorectal neoplasms measuring 40 mm or more in size. [electronic resource] by
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EPA guidance mental health care of migrants. [electronic resource] by
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A high resolution deletion map of human chromosome Xp22. [electronic resource] by
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Carbon dioxide insufflation versus air insufflation during endoscopic retrograde cholangiopancreatography under general anesthesia. [electronic resource] by
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X-linked situs abnormalities result from mutations in ZIC3. [electronic resource] by
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A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. [electronic resource] by
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- Ferrero, G B
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- Grillo, A
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In:
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Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. [electronic resource] by
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Nitric oxide inhibition of Drp1-mediated mitochondrial fission is critical for myogenic differentiation. [electronic resource] by
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Peripheral T cells from multiple sclerosis patients trigger synaptotoxic alterations in central neurons. [electronic resource] by
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Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction. [electronic resource] by
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- Ghezzi, S
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- Guglieri, M
- Napoli, L
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In:
Neurology vol. 71
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