Found: 6
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Novel Mutations in the DGKE Gene in Two Indian Patients with Early-onset Atypical Haemolytic Uraemic Syndrome.
- Published in:
- Indian Journal of Nephrology, 2021, v. 31, n. 2, p. 182, doi. 10.4103/ijn.IJN_336_19
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- Publication type:
- Article
Point of sampling detection of Zika virus within a multiplexed kit capable of detecting dengue and chikungunya.
- Published in:
- 2017
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- Publication type:
- journal article
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
- Published in:
- Endocrine (1355008X), 2021, v. 71, n. 1, p. 189, doi. 10.1007/s12020-020-02494-z
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- Publication type:
- Article
A Targeted Next Generation Sequencing Panel for Non-syndromic Early Onset Severe Obesity and Identification of Novel Likely -Pathogenic Variants in the MC4R and LEP Genes.
- Published in:
- 2020
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- Publication type:
- journal article
Long-term Growth in Congenital Adrenal Hyperplasia.
- Published in:
- 2019
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- Publication type:
- journal article
Use of two complementary new molecular techniques, next‐generation sequencing and droplet digital PCR, for diagnosis of an F8 gene deletion and subsequent carrier analysis in a family with haemophilia A: A Case Report.
- Published in:
- Haemophilia, 2018, v. 24, n. 6, p. e425, doi. 10.1111/hae.13613
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- Publication type:
- Article