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Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 708, doi. 10.1002/ajmg.a.36950
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- Article
The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
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- Nature Genetics, 2002, v. 32, n. 3, p. 384, doi. 10.1038/ng1002
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- Article
FREQUENCY OF THE IVS12+5G→A SPLICE MUTATION OF THE FUMARYLACETOACETATE HYDROLASE GENE IN CARRIERS OF HEREDITARY TYROSINAEMIA IN THE FRENCH CANADIAN POPULATION OF SAGUENAY-LAC-ST-JEAN.
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- Prenatal Diagnosis, 1996, v. 16, n. 1, p. 59, doi. 10.1002/(SICI)1097-0223(199601)16:1<59::AID-PD810>3.0.CO;2-D
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- Article
Hypobaric Hypoxia on Pulmonary Wash Fluid of Rats.
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- Respiration, 1980, v. 40, n. 2, p. 76, doi. 10.1159/000194255
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- Article
Identification of Two Secreted Phospholipases A<sub>2</sub> in Human Epidermis.
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- Journal of Investigative Dermatology, 2000, v. 114, n. 5, p. 960, doi. 10.1046/j.1523-1747.2000.00965.x
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- Article
Assessment of the Effectiveness of Radon Screening Programs in Reducing Lung Cancer Mortality.
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- Risk Analysis: An International Journal, 2008, v. 28, n. 5, p. 1221, doi. 10.1111/j.1539-6924.2008.01105.x
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- Article