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Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 1, p. 33, doi. 10.1038/jhg.2012.131
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- Article
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
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- Journal of Human Genetics, 2011, v. 56, n. 12, p. 846, doi. 10.1038/jhg.2011.115
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- Article
Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies.
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- Human Molecular Genetics, 2006, v. 15, n. 8, p. 1279, doi. 10.1093/hmg/ddl045
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- Article
Induction of hematopoietic prostaglandin D synthase in hyalinated necrotic muscle fibers: its implication in grouped necrosis.
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- Acta Neuropathologica, 2002, v. 104, n. 4, p. 377, doi. 10.1007/s00401-002-0567-z
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- Article
Selected Papers: AED.
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- Epilepsia (Series 4), 2005, v. 46, p. 78, doi. 10.1111/j.0013-9580.2005.t01-4-20050228.x
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- Article
Epilepsy in Wolf-Hirschhorn Syndrome (4p-).
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- Epilepsia (Series 4), 2005, v. 46, n. 1, p. 150, doi. 10.1111/j.0013-9580.2005.02804.x
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- Article
A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 203, doi. 10.1002/ajmg.a.35686
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- Article