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Clinical, biochemical, genetic, and therapeutic profile of patients with epidermal necrolysis: A descriptive study

Indian journal of dermatology, 2022-07, Vol.67 (4), p.479-479

2022

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Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma

Indian journal of ophthalmology, 2021-10, Vol.69 (10), p.2710-2716

2021

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Assessing The Issues of Honour and Violence Against Women: A Human Rights Discourse Framework for The Detection of Violence Against Women

BIO web of conferences, 2024-01, Vol.86, p.1114

2024

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Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities

Taiwan journal of ophthalmology, 2023-10, Vol.13 (4), p.505-519

2023

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Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

Indian journal of ophthalmology, 2019-07, Vol.67 (7), p.1226-1229

2019

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Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation

Indian journal of medical research (New Delhi, India : 1994), 2014-05, Vol.139 (5), p.779-781

2014

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Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations

Indian journal of ophthalmology, 2016-07, Vol.64 (7), p.492-495

2016

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Role of the HLA‐G regulatory region polymorphisms in idiopathic recurrent spontaneous abortions (RSA)

American journal of reproductive immunology (1989), 2023-08, Vol.90 (2), p.e13740-n/a

2023

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METHYLATION AND EXPRESSION LEVEL CHANGES OF DOPAMINE TRANSPORTER AND ALPHA SYNUCLEIN GENES IN ALCOHOL AND OPIOID DEPENDENCE

European neuropsychopharmacology, 2022-10, Vol.63, p.e161

2022

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An unusual association of hypospadias with partial deletion of chromosome 1q

Fertility and sterility, 2010-05, Vol.93 (7), p.2413.e11-2413.e13

2010

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Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families

Indian journal of endocrinology and metabolism, 2015-09, Vol.19 (5), p.644-648

2015

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A new association of PAX6 variation with Juvenile onset open angle glaucoma

Journal of human genetics, 2023-05, Vol.68 (5), p.355-358

2023

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T125. STUDY ON THE ASSOCIATION OF SEROTONIN AND GABAA RECEPTOR GENE POLYMORPHISMS WITH ALCOHOL DEPENDENCE

European neuropsychopharmacology, 2022-10, Vol.63, p.e236

2022

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A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma

Case reports in rheumatology, 2016-01, Vol.2016, p.8536341-4

2016

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A quantitative trait GWAS on lens thickness identifies novel risk loci on PTPRM in the narrow angle individuals susceptible to PACG

European journal of ophthalmology, 2023-09, Vol.33 (5), p.1922-1930

2023

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Juvenile glaucomas and multi locus disease causing genomic variations

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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Genetic and clinical profile of patients with hypophosphatemic rickets

European journal of medical genetics, 2022-08, Vol.65 (8), p.104540-104540, Article 104540

2022

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Association of transforming growth factor beta induced mutations with congenital and juvenile onset open angle glaucoma

Acta ophthalmologica (Oxford, England), 2022-12, Vol.100 (S275), p.n/a

2022

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Clinical profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism

Clinical endocrinology (Oxford), 2023-11, Vol.99 (5), p.449-458

2023

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Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma

Journal of biosciences, 2021-12, Vol.46 (1), Article 15

2021

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A STUDY ON THE ASSOCIATION OF POLYMORPHISMS AND METHYLATION STATUS OF DOPAMINE PATHWAY GENES IN ALCOHOL DEPENDENCE

European neuropsychopharmacology, 2019, Vol.29, p.S1016

2019

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M112 - A STUDY ON THE ASSOCIATION OF POLYMORPHISMS AND METHYLATION STATUS OF DOPAMINE PATHWAY GENES IN ALCOHOL DEPENDENCE

European neuropsychopharmacology, 2019, Vol.29, p.S1016-S1016

2019

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In ovo Sound Stimulation Mediated Regulation of BDNF in the Auditory Cortex and Hippocampus of Neonatal Chicks

Neuroscience, 2019-06, Vol.408, p.293-307

2019

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The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma

Eye (London), 2021-02, Vol.35 (2), p.400-408

2021

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Role of the Serotonin and GABAA Receptor Gene Polymorphisms in patients with Alcohol Dependence

Asian journal of psychiatry, 2023-02, Vol.80, p.103326-103326, Article 103326

2023

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Clinical, biochemical, genetic, and therapeutic profile of patients with epidermal necrolysis: A descriptive study

Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma

Assessing The Issues of Honour and Violence Against Women: A Human Rights Discourse Framework for The Detection of Violence Against Women

Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma

Rare manifestation of multiple endocrine neoplasia type 2A & cutaneous lichen amyloidosis in a family with RET gene mutation

Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations

Role of the HLA‐G regulatory region polymorphisms in idiopathic recurrent spontaneous abortions (RSA)

METHYLATION AND EXPRESSION LEVEL CHANGES OF DOPAMINE TRANSPORTER AND ALPHA SYNUCLEIN GENES IN ALCOHOL AND OPIOID DEPENDENCE

An unusual association of hypospadias with partial deletion of chromosome 1q

Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families

A new association of PAX6 variation with Juvenile onset open angle glaucoma

T125. STUDY ON THE ASSOCIATION OF SEROTONIN AND GABAA RECEPTOR GENE POLYMORPHISMS WITH ALCOHOL DEPENDENCE

A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma

A quantitative trait GWAS on lens thickness identifies novel risk loci on PTPRM in the narrow angle individuals susceptible to PACG

Juvenile glaucomas and multi locus disease causing genomic variations

Genetic and clinical profile of patients with hypophosphatemic rickets

Association of transforming growth factor beta induced mutations with congenital and juvenile onset open angle glaucoma

Clinical profile and treatment outcomes among patients with sporadic and multiple endocrine neoplasia syndrome-related primary hyperparathyroidism

Haplotype-based genomic analysis reveals novel association of CNTNAP5 genic region with primary angle closure glaucoma

A STUDY ON THE ASSOCIATION OF POLYMORPHISMS AND METHYLATION STATUS OF DOPAMINE PATHWAY GENES IN ALCOHOL DEPENDENCE

M112 - A STUDY ON THE ASSOCIATION OF POLYMORPHISMS AND METHYLATION STATUS OF DOPAMINE PATHWAY GENES IN ALCOHOL DEPENDENCE

In ovo Sound Stimulation Mediated Regulation of BDNF in the Auditory Cortex and Hippocampus of Neonatal Chicks

The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma

Role of the Serotonin and GABAA Receptor Gene Polymorphisms in patients with Alcohol Dependence

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