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Brothers with constrictive pericarditis – A novel mutation in a rare disease

Indian heart journal, 2016-09, Vol.68 (Suppl 2), p.S284-S287

2016

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Mitochondria in biology and medicine – 2023

Mitochondrion, 2024-05, Vol.76, p.101853-101853, Article 101853

2024

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Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Gene, 2017-01, Vol.599, p.19-27

2017

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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Human mutation, 2021-10, Vol.42 (10), p.1336-1350

2021

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Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Journal of assisted reproduction and genetics, 2011-02, Vol.28 (2), p.145-149

2011

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Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

Journal of research in medical sciences, 2012-06, Vol.17 (6), p.572-574

2012

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Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

Indian pediatrics, 2019-07, Vol.56 (7), p.556-559

2019

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Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family

Hemoglobin, 2018-03, Vol.42 (2), p.141-142

2018

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Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

Indian journal of medical research (New Delhi, India : 1994), 2014-08, Vol.140 (2), p.221-226

2014

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Spectrum of lysosomal storage disorders at a medical genetics center in Northern India

Indian pediatrics, 2012-10, Vol.49 (10), p.799-804

2012

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Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR

European journal of medical genetics, 2015-03, Vol.58 (3), p.160-167

2015

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Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

Indian journal of pediatrics, 2016-04, Vol.83 (4), p.354-355

2016

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Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Gene, 2014-06, Vol.542 (2), p.266-268

2014

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Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome

Gene, 2012-03, Vol.495 (2), p.199-204

2012

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Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

Indian journal of medical research (New Delhi, India : 1994), 2012-12, Vol.136 (6), p.1048-1050

2012

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A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia

Journal of child neurology, 2014-01, Vol.29 (1), p.122-127

2014

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GAPO syndrome with deafness: new feature or incidental finding?

Clinical dysmorphology, 2013-10, Vol.22 (4), p.161-163

2013

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Novel and recurrent mutations in WISP3 and an atypical phenotype

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2481-2484

2015

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Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India

Archives of Iranian medicine, 2013-05, Vol.16 (5), p.267

2013

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ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

Neurology. Genetics, 2017-06, Vol.3 (3), p.e148-e148

2017

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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

Indian journal of medical research (New Delhi, India : 1994), 2015-10, Vol.142 (4), p.414-425

2015

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Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

Clinical dysmorphology, 2013-04, Vol.22 (2), p.73-75

2013

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Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

Indian journal of pediatrics, 2012-10, Vol.79 (10), p.1366-1369

2012

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Prenatal diagnosis in India is not limited to sex selection

Genetics in medicine, 2015-01, Vol.17 (1), p.88-88

2015

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Morphometric analysis of face in dysmorphology

Computer methods and programs in biomedicine, 2007-02, Vol.85 (2), p.165-172

2007

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Brothers with constrictive pericarditis – A novel mutation in a rare disease

Mitochondria in biology and medicine – 2023

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Molecular and cytogenetic characterization of two patients with recurrent miscarriages and X-autosome translocation

Molecular and Histopathological Characterization of Patients Presenting with the Duchenne Muscular Dystrophy Phenotype in a Tertiary Care Center in Southern India

Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome

Spectrum of lysosomal storage disorders at a medical genetics center in Northern India

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR

Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India

A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia

GAPO syndrome with deafness: new feature or incidental finding?

Novel and recurrent mutations in WISP3 and an atypical phenotype

Chromosomal abnormalities in amenorrhea: a retrospective study and review of 637 patients in South India

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI

Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome?

Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

Prenatal diagnosis in India is not limited to sex selection

Morphometric analysis of face in dysmorphology

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