Found: 15
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A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis.
- Published in:
- British Journal of Dermatology, 2021, v. 184, n. 5, p. 967, doi. 10.1111/bjd.19717
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- Article
Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations*.
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- British Journal of Dermatology, 2021, v. 184, n. 5, p. 935, doi. 10.1111/bjd.19481
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- Article
一项关于基因突变及其与不同鱼鳞病类型相关性的研究.
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- British Journal of Dermatology, 2020, v. 182, n. 3, p. e114, doi. 10.1111/bjd.18845
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A study of gene mutations and how they relate to the different types of ichthyosis.
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- British Journal of Dermatology, 2020, v. 182, n. 3, p. e101, doi. 10.1111/bjd.18832
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- Article
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis.
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- British Journal of Dermatology, 2020, v. 182, n. 3, p. 729, doi. 10.1111/bjd.18211
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- Article
PADI3, hair disorders and genomic investigation.
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- British Journal of Dermatology, 2019, v. 181, n. 6, p. 1115, doi. 10.1111/bjd.18463
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- Article
Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7.
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- British Journal of Dermatology, 2017, v. 177, n. 3, p. e62, doi. 10.1111/bjd.15315
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- Article
Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
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- British Journal of Dermatology, 2017, v. 176, n. 2, p. 534, doi. 10.1111/bjd.14845
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- Article
Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro.
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- British Journal of Dermatology, 2016, v. 175, n. 3, p. 632, doi. 10.1111/bjd.14621
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- Article
Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
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- British Journal of Dermatology, 2015, v. 172, n. 5, p. 1407, doi. 10.1111/bjd.13473
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- Article
Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ).
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- British Journal of Dermatology, 2015, v. 172, n. 4, p. 1111, doi. 10.1111/bjd.13413
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- Article
Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.
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- British Journal of Dermatology, 2015, v. 172, n. 2, p. 527, doi. 10.1111/bjd.13294
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- Article
Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.
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- British Journal of Dermatology, 2015, v. 172, n. 1, p. 94, doi. 10.1111/bjd.13190
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- Article
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.
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- British Journal of Dermatology, 2012, v. 167, n. 2, p. 440, doi. 10.1111/j.1365-2133.2012.11115.x
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- Article
Genetic architecture of acne vulgaris.
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- Journal of the European Academy of Dermatology & Venereology, 2017, v. 31, n. 12, p. 1978, doi. 10.1111/jdv.14385
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- Article