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A Rare Case of Dysmorphism with Duplication in Chromosome 22

Indian journal of clinical biochemistry, 2022-10, Vol.37 (4), p.504-506

2022

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Association between Maternal FUT2 204A>G (rs492602) Genetic Polymorphism and Congenital Heart Disease in the Indian Population: A Study in Maternal-fetal Dyads

Molecular and Cellular Biomedical Sciences, 2023-07, Vol.7 (2), p.65-9

2023

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Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

Indian journal of dermatology, 2022-01, Vol.67 (1), p.45-49

2022

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A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2

Faṣlnāmah-i pizishkī-i bārvar va nābārvar, 2022-04, Vol.23 (2), p.135

2022

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Risk factors for congenital anomalies in high risk pregnant women: A large study from South India

The Egyptian journal of medical human genetics, 2017-01, Vol.18 (1), p.79-85

2017

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Variants of DHFR, MTHFD1, and MTHFR Genes: Relation to CNS Malformations

Journal of obstetrics and gynaecology of India, 2014-12, Vol.64 (Suppl 1), p.24-25

2014

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Study of KIAA0319, DYXIC1 and DCDC2 Gene Polymorphisms in Children with Dyslexia in Indian Population

Basic and clinical neuroscience, 2023-09, Vol.14 (5)

2023

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A novel de novo autosomal translocation 46, XX, t (5; 8) in a female with primary amenorrhea

European journal of obstetrics & gynecology and reproductive biology, 2018-02, Vol.221, p.201-203

2018

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Study of KIAA0319, DYXIC1 and DCDC2 Gene Polymorphisms in Children with Dyslexia in Indian Population

Basic and clinical neuroscience, 2022-04

2022

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Paternal transmission of MTHFD 1 G1958A variant predisposes to neural tube defects in the offspring

Developmental medicine and child neurology, 2016-06, Vol.58 (6), p.625-631

2016

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Role of IL-10 -819(T/C) Promoter Polymorphism in Preeclampsia

Inflammation, 2014-08, Vol.37 (4), p.1022-1027

2014

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Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring

Developmental medicine and child neurology, 2016-06, Vol.58 (6), p.625-631

2016

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Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case–Control and Family‐Based Triad Approaches

Birth defects research, 2017-08, Vol.109 (13), p.1020-1029

2017

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Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches

Birth defects research, 2017-07, Vol.109 (13), p.1020

2017

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Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches: SHMT1 and NTD Susceptibility in the Fetus

Birth defects research, 2017-04

2017

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PON1 GENE POLYMORPHISM AND SERUM PARAOXONASE LEVELS IN WOMEN OCCUPATIONALLY EXPOSED TO ORGANOPHOSPHATE PESTICIDES IN SOUTH INDIA

International journal of advanced research (Indore), 2016-09, Vol.4 (9), p.539-546

2016

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A rare occurrence of concordant neural tube defects in monozygotic twins of an epileptic woman

Neurology India, 2012-07, Vol.60 (4), p.428-429

2012

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Joubert Syndrome with Homozygous Duplication in Exon 7 of SMN2 Gene and c.746G>A (p.R249H) Variant of Uncertain Significance in TRPV4 Gene: A Case Report

Journal of Pediatrics, Perinatology and Child Health, 2020, Vol.4 (4)

2020

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Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system

European Journal of Medical Case Reports, 2021, Vol.5 (9), p.256-259

2021

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A Rare Case of Dysmorphism with Duplication in Chromosome 22

Indian journal of clinical biochemistry : IJCB, 2022, Vol.37 (4), p.504-506

2022

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Maternal TCN1 (rs526934) G>A Gene Polymorphism and its Association with Congenital Heart Disease (CHD)

Journal of Women's Health and Development, 2020, Vol.3 (4)

2020

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Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes

Indian journal of dermatology, 2022, Vol.67 (1), p.45-49

2022

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A novel de novo autosomal translocation 46, XX, t (5; 8) in a female with primary amenorrhea

European journal of obstetrics, gynecology, and reproductive biology, 2018, Vol.221, p.201-203

2018

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Evaluation of interleukin-10 promoter polymorphism in preeclampsia

Faṣlnāmah-i pizishkī-i bārvar va nābārvar, 2013-04, Vol.14 (2), p.62

2013

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Evaluation of interleukin-10

Faṣlnāmah-i pizishkī-i bārvar va nābārvar, 2013-04, Vol.14 (2), p.62

2013

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A Rare Case of Dysmorphism with Duplication in Chromosome 22

Association between Maternal FUT2 204A>G (rs492602) Genetic Polymorphism and Congenital Heart Disease in the Indian Population: A Study in Maternal-fetal Dyads

Epidermolysis bullosa: A report of three cases with novel heterozygous deletions in PLEC and homozygous non sense mutations in COL7A1 genes

A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2

Risk factors for congenital anomalies in high risk pregnant women: A large study from South India

Variants of DHFR, MTHFD1, and MTHFR Genes: Relation to CNS Malformations

Study of KIAA0319, DYXIC1 and DCDC2 Gene Polymorphisms in Children with Dyslexia in Indian Population

A novel de novo autosomal translocation 46, XX, t (5; 8) in a female with primary amenorrhea

Study of KIAA0319, DYXIC1 and DCDC2 Gene Polymorphisms in Children with Dyslexia in Indian Population

Paternal transmission of MTHFD 1 G1958A variant predisposes to neural tube defects in the offspring

Role of IL-10 -819(T/C) Promoter Polymorphism in Preeclampsia

Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case–Control and Family‐Based Triad Approaches

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches

Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches: SHMT1 and NTD Susceptibility in the Fetus

PON1 GENE POLYMORPHISM AND SERUM PARAOXONASE LEVELS IN WOMEN OCCUPATIONALLY EXPOSED TO ORGANOPHOSPHATE PESTICIDES IN SOUTH INDIA

A rare occurrence of concordant neural tube defects in monozygotic twins of an epileptic woman

Joubert Syndrome with Homozygous Duplication in Exon 7 of SMN2 Gene and c.746G>A (p.R249H) Variant of Uncertain Significance in TRPV4 Gene: A Case Report

Peroxisomal acyl CoA oxidase deficiency: a rare inherited disorder of nervous system

A Rare Case of Dysmorphism with Duplication in Chromosome 22

Maternal TCN1 (rs526934) G>A Gene Polymorphism and its Association with Congenital Heart Disease (CHD)

Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes

A novel de novo autosomal translocation 46, XX, t (5; 8) in a female with primary amenorrhea

Evaluation of interleukin-10 promoter polymorphism in preeclampsia

Evaluation of interleukin-10

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