Found: 12
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An unexpected case of non-uremic calciphylaxis in a patient with multiple risk factors.
- Published in:
- Dermatology Online Journal, 2022, v. 28, n. 6, p. 1, doi. 10.5070/D328659739
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- Article
The matriptase-prostasin proteolytic cascade in dermatologic diseases.
- Published in:
- Experimental Dermatology, 2020, v. 29, n. 7, p. 580, doi. 10.1111/exd.14104
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- Publication type:
- Article
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
- Published in:
- Experimental Dermatology, 2019, v. 28, n. 10, p. 1118, doi. 10.1111/exd.13501
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- Article
Inherited Interleukin 2–Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
- Published in:
- Clinical Infectious Diseases, 2019, v. 68, n. 11, p. 1938, doi. 10.1093/cid/ciy942
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- Article
Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 288, doi. 10.1002/humu.23695
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- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
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- Publication type:
- Article
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1159, doi. 10.1007/s10545-018-0228-6
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- Publication type:
- Article
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1349, doi. 10.1002/humu.23592
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- Publication type:
- Article
The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
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- 2018
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- Case Study
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Self-extubation Laryngeal Injuries at an Academic Tertiary Care Center: A Retrospective Pilot Study.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2017, v. 126, n. 7, p. 555, doi. 10.1177/0003489417709795
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- Publication type:
- Article
Regulation of proinflammatory genes by the circulating microRNA hsa-miR-939.
- Published in:
- Scientific Reports, 2016, p. 30976, doi. 10.1038/srep30976
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- Publication type:
- Article