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Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

Clinical genetics, 2018-07, Vol.94 (1), p.159-164

2018

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Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Clinical genetics, 2016-12, Vol.90 (6), p.496-508

2016

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Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity

Clinical genetics, 2012-02, Vol.81 (2), p.158-164

2012

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Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

Journal of postgraduate medicine, 2016-10, Vol.62 (4), p.239-241

2016

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A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

British journal of dermatology (1951), 2012-04, Vol.166 (4), p.819-829

2012

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A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy

Indian journal of nephrology, 2016-09, Vol.26 (5), p.364-367

2016

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Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype

Clinical genetics, 2013-12, Vol.84 (6), p.600-602

2013

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The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss

Placenta (Eastbourne), 2015-02, Vol.36 (2), p.226-231

2015

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Mutation analysis in Indian children with achondroplasia — utility of molecular diagnosis

Indian journal of pediatrics, 2009-02, Vol.76 (2), p.147-149

2009

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Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Journal of Perinatology, 2006-04, Vol.26 (4), p.224-229

2006

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Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family

Andrologia, 2011-02, Vol.43 (1), p.75-77

2011

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Biomolecular electronics in the Twenty-First Century

Applied biochemistry and biotechnology, 2001-10, Vol.96 (1/3), p.269-276

Phadke, R.S

2001

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Iron coordination by catechol derivative antioxidants

Biochemical pharmacology, 1996-06, Vol.51 (11), p.1569-1577

1996

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Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation

International journal of laboratory hematology, 2012-08, Vol.34 (4), p.e7-e9

2012

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Low level of mosaicism in atypical Prader Willi syndrome: Detection using fluorescent in situ hybridization

Indian pediatrics, 2003-02, Vol.40 (2), p.166-168

2003

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Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?

Indian pediatrics, 2011-11, Vol.48 (11), p.901-906

2011

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Post-mortem examination of prenatally diagnosed fatal renal malformation

Journal of Perinatology, 2008-11, Vol.28 (11), p.736-742

2008

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Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Journal of Perinatology, 2007-09, Vol.27 (9), p.550-555

2007

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Molecular diagnosis and genetic counseling for fragile X mental retardation

Neurology India, 2004-03, Vol.52 (1), p.36-42

Pandey UB, Phadke SR, Mittal B

2004

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Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

Indian pediatrics, 2011-10, Vol.48 (10), p.779-784

2011

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Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

Journal of applied genetics, 2010-01, Vol.51 (1), p.107-110

2010

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Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients

Journal of neurology, 2005-06, Vol.252 (6), p.667-671

2005

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Handigodu disease: a radiological study: a new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type

Skeletal radiology, 1994-11, Vol.23 (8), p.611-619

1994

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A novel steroidal spin label for membrane structure studies: synthesis and applications

Steroids, 1999-12, Vol.64 (12), p.849-855

1999

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Simultaneous polymerization and crystallization of aniline

Synthetic metals, 2002-09, Vol.130 (2), p.185-192

2002

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Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy

Utility of chromosomal microarray in five cases with cytogenetic abnormalities detected by traditional karyotype

The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss

Mutation analysis in Indian children with achondroplasia — utility of molecular diagnosis

Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Reciprocal balanced translocation: infertility and recurrent spontaneous abortions in a family

Biomolecular electronics in the Twenty-First Century

Iron coordination by catechol derivative antioxidants

Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation

Low level of mosaicism in atypical Prader Willi syndrome: Detection using fluorescent in situ hybridization

Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?

Post-mortem examination of prenatally diagnosed fatal renal malformation

Uptake of invasive prenatal diagnostic tests in women after detection of soft markers for chromosomal abnormality on ultrasonographic evaluation

Molecular diagnosis and genetic counseling for fragile X mental retardation

Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients

Handigodu disease: a radiological study: a new variety of spondyloepi(meta)physeal dysplasia of the autosomal dominant type

A novel steroidal spin label for membrane structure studies: synthesis and applications

Simultaneous polymerization and crystallization of aniline

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