Found: 20
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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
- By:
- Publication type:
- journal article
Genetic Analysis and Clinical Presentation in Silver Russell Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- case study
Influence of Vitamin D Receptor Gene Fok1 Polymorphism on Bone Mass Accrual Post Calcium and Vitamin D Supplementation.
- Published in:
- 2015
- By:
- 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
- By:
- Publication type:
- Article
High prevalence of CFHR deletions in Indian women with pregnancy‐associated hemolytic uremic syndrome.
- Published in:
- Nephrology, 2022, v. 27, n. 3, p. 231, doi. 10.1111/nep.14004
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- Publication type:
- Article
Association of Fat Mass and Obesity-associated Gene Variant with Lifestyle Factors and Body Fat in Indian Children.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2017, v. 21, n. 2, p. 297, doi. 10.4103/ijem.IJEM_372_16
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- Publication type:
- Article
Vitamin D receptor gene polymorphisms and bone mass indices in post-menarchal Indian adolescent girls.
- Published in:
- Journal of Bone & Mineral Metabolism, 2013, v. 31, n. 1, p. 108, doi. 10.1007/s00774-012-0390-0
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- Publication type:
- Article
Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 6, p. 669, doi. 10.1515/jpem-2016-0382
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- Publication type:
- Article
Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 869, doi. 10.1515/jpem-2013-0416
- By:
- Publication type:
- Article
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
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
Profiling the alkaline membrane proteome of Caulobacter crescentus with two-dimensional electrophoresis and mass spectrometry.
- Published in:
- Proteomics, 2002, v. 2, n. 7, p. 899, doi. 10.1002/1615-9861(200207)2:7<899::AID-PROT899>3.0.CO;2-Y
- By:
- Publication type:
- Article
Analysis of the outer membrane proteome of Caulobacter crescentus by two-dimensional electrophoresis and mass spectrometry.
- Published in:
- Proteomics, 2001, v. 1, n. 5, p. 705, doi. 10.1002/1615-9861(200104)1:5<705::AID-PROT705>3.0.CO;2-N
- By:
- Publication type:
- Article
Ultra-rapid detection of SARS-CoV-2 in public workspace environments.
- Published in:
- PLoS ONE, 2021, v. 16, n. 2, p. 1, doi. 10.1371/journal.pone.0240524
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- Publication type:
- Article
Two-dimensional electrophoresis and peptide mass fingerprinting of bacterial outer membrane proteins.
- Published in:
- Electrophoresis, 2001, v. 22, n. 9, p. 1686, doi. 10.1002/1522-2683(200105)22:9<1686::AID-ELPS1686>3.0.CO;2-L
- By:
- Publication type:
- Article
Point of sampling detection of Zika virus within a multiplexed kit capable of detecting dengue and chikungunya.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Detection of Carrier Status and Mutations in Family Members of a Child with Complete Deletion of the DAX1 Gene using Multiplex Ligation-Dependent Probe Amplification.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Entire DAX1 Gene Deletion in an Indian Boy with Adrenal Hypoplasia Congenita.
- Published in:
- Indian Journal of Pediatrics, 2013, v. 80, n. 8, p. 631, doi. 10.1007/s12098-012-0946-y
- By:
- Publication type:
- Article
Influence of hydrological factors on bacterial community structure in a tropical monsoonal estuary in India.
- Published in:
- Environmental Science & Pollution Research, 2021, v. 28, n. 36, p. 50579, doi. 10.1007/s11356-021-14263-0
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- Publication type:
- Article
Proteomic screening and identification of differentially distributed membrane proteins in Escherichia coli.
- Published in:
- Molecular Microbiology, 2004, v. 52, n. 4, p. 1029, doi. 10.1111/j.1365-2958.2004.04040.x
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- Publication type:
- Article