Found: 14
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The missing 'link': an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
- Published in:
- Human Genetics, 2014, v. 133, n. 1, p. 29, doi. 10.1007/s00439-013-1351-y
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- Publication type:
- Article
Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq.
- Published in:
- 2016
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- Publication type:
- Case Study
Modulation of human endogenous retrovirus (HERV) transcription during persistent and de novo HIV-1 infection.
- Published in:
- Retrovirology, 2015, v. 12, n. 1, p. 1, doi. 10.1186/s12977-015-0156-6
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- Publication type:
- Article
Cutaneous Vascular Malformations in a 53-Year-Old Woman With Neurologic Symptoms.
- Published in:
- JAMA Dermatology, 2023, v. 159, n. 10, p. 1133, doi. 10.1001/jamadermatol.2023.3216
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- Publication type:
- Article
Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat.
- Published in:
- Aesthetic Plastic Surgery, 2020, v. 44, n. 3, p. 855, doi. 10.1007/s00266-020-01666-6
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- Publication type:
- Article
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 643, doi. 10.1038/ejhg.2012.222
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- Publication type:
- Article
Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44382-1
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- Publication type:
- Article
Multiple Symmetric Lipomatosis: A Cross-Sectional Study to Investigate Clinical Features and Patients' Quality of Life.
- Published in:
- Symmetry (20738994), 2021, v. 13, n. 10, p. 1823, doi. 10.3390/sym13101823
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- Publication type:
- Article
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 7, p. 1328, doi. 10.1093/hmg/dds540
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- Publication type:
- Article
VPA response in SMA is suppressed by the fatty acid translocase CD36.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 2, p. 398, doi. 10.1093/hmg/dds437
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- Publication type:
- Article
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4334, doi. 10.1093/hmg/ddr360
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- Publication type:
- Article
NHE1 expression at wound margins increases time-dependently during physiological healing.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 2, p. 124, doi. 10.1111/exd.13097
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- Publication type:
- Article
Proton-sensing G protein-coupled receptors as regulators of cell proliferation and migration during tumor growth and wound healing.
- Published in:
- Experimental Dermatology, 2017, v. 26, n. 2, p. 127, doi. 10.1111/exd.13209
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- Publication type:
- Article
Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report.
- Published in:
- 2024
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- Publication type:
- Case Study