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A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts‐1 in north Indian kindred.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 2, p. 271, doi. 10.1111/cge.13251
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- Publication type:
- Article
Utility of whole‐exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India – implications on diagnosis, prognosis and prenatal testing.
- Published in:
- 2018
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- Publication type:
- Case Study
Whole-exome sequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis verruciformis.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2016, v. 30, n. 4, p. 695, doi. 10.1111/jdv.12983
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- Publication type:
- Article
Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa.
- Published in:
- British Journal of Dermatology, 2017, v. 176, n. 6, p. 1624, doi. 10.1111/bjd.15221
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- Publication type:
- Article
A new strain of white spot syndrome virus affecting Litopenaeus vannamei in Indian shrimp farms.
- Published in:
- Journal of Fish Diseases, 2018, v. 41, n. 7, p. 1129, doi. 10.1111/jfd.12811
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- Publication type:
- Article