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SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
- Published in:
- Journal of Bone & Mineral Research, 2013, v. 28, n. 5, p. 1041, doi. 10.1002/jbmr.1849
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- Article
Clinical Vignette: Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRGJ Gene in Five Osteopetrotic Patients.
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- Journal of Bone & Mineral Research, 2009, v. 24, n. 1, p. 162, doi. 10.1359/jbmr.080818
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- Article
Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis.
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- Glycoconjugate Journal, 2009, v. 26, n. 6, p. 623, doi. 10.1007/s10719-008-9179-8
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- Article
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
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- Human Mutation, 2010, v. 31, n. 1, p. E1071, doi. 10.1002/humu.21167
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- Article
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene.
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- Journal of Bone & Mineral Research, 2014, v. 29, n. 7, p. 1646, doi. 10.1002/jbmr.2203
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- Article