Found: 6
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X-linked reticulate pigmentary disorder in a 4-year-old boy.
- Published in:
- Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii, 2022, v. 39, n. 2, p. 410, doi. 10.5114/ada.2022.115893
- By:
- Publication type:
- Article
Late-onset hereditary sensory and autonomic neuropathy type 2B caused by novel compound heterozygous mutations in FAM134B presenting as chronic recurrent ulcers on the soles.
- Published in:
- 2021
- By:
- Publication type:
- case study
Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2019, v. 85, n. 4, p. 438, doi. 10.4103/ijdvl.IJDVL_360_17
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- Publication type:
- Article
Novel mutations in associated with dyschromatosis universalis hereditaria.
- Published in:
- 2019
- By:
- Publication type:
- letter
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Neonatal hereditary dystrophic epidermolysis bullosa: a genetically diagnosed case report.
- Published in:
- Journal of Health Sciences of Peking University / Beijing Daxue Xuebao (Yixue Ban), 2013, v. 45, n. 2, p. 202, doi. 10.3969/j.issn.1671-167X.2013.02.008
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- Publication type:
- Article