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Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 366, doi. 10.1111/j.1749-6632.1999.tb08598.x
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- Article
CpG methylation within the 5′ regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site.
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- Oncogene, 1998, v. 16, n. 9, p. 1161, doi. 10.1038/sj.onc.1201630
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- Article
A model for GFRa4 function and a potential modifying role in multiple endocrine neoplasia 2.
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- Oncogene, 2005, v. 24, n. 6, p. 1091, doi. 10.1038/sj.onc.1207826
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- Article
The defining DNA methylation signature of Floating-Harbor Syndrome.
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- Scientific Reports, 2016, p. 38803, doi. 10.1038/srep38803
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- Article
A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39.
- Published in:
- Human Mutation, 1997, v. 9, n. 5, p. 473, doi. 10.1002/(SICI)1098-1004(1997)9:5<473::AID-HUMU15>3.0.CO;2-#
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- Article
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease.
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- Human Mutation, 1996, v. 7, n. 2, p. 167, doi. 10.1002/(SICI)1098-1004(1996)7:2<167::AID-HUMU14>3.0.CO;2-0
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- Article
Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis.
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- Acta Neuropathologica, 2001, v. 101, n. 2, p. 129, doi. 10.1007/s004010000275
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- Article
Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
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- Muscle & Nerve, 2008, v. 38, n. 5, p. 1510, doi. 10.1002/mus.21145
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- Article
Clinical and pathological observations in men lacking the gap junction protein connexin 32.
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- Muscle & Nerve, 2000, v. 23, n. S9, p. S39, doi. 10.1002/1097-4598(2000)999:9<::AID-MUS8>3.0.CO;2-C
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- Article
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
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- Epigenetics & Chromatin, 2017, v. 10, p. 1, doi. 10.1186/s13072-017-0118-4
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- Article