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Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

Indian journal of medical research (New Delhi, India : 1994), 2023-09, Vol.158 (3), p.319-323

2023

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Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study

World journal of surgery, 2022-03, Vol.46 (3), p.591-599

2022

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Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

Fetal and pediatric pathology, 2022-11, Vol.41 (6), p.1041-1051

2022

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Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population

Frontiers in genetics, 2023-05, Vol.14, p.1155211-1155211

2023

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Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia

Thalassemia reports, 2023-03, Vol.13 (1), p.85-112

2023

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Molecular Diagnostics In Metabolic Disorder: A Clinician's Approach

Indian journal of clinical biochemistry, 2022-05, Vol.32 (S1), p.S23

Mandal, Kausik

2022

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Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series

Nephron (2015), 2020-01, Vol.144 (1), p.21-29

2020

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Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.163-168

2017

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Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort

Heliyon, 2024-01, Vol.10 (1), p.e23685-e23685, Article e23685

2024

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SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

Journal of clinical research in pediatric endocrinology, 2024-03, Vol.16 (1), p.41-49

2024

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Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Egyptian Journal of Medical Human Genetics, 2022-12, Vol.23 (1), Article 126

2022

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A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation

MedComm (2020), 2024-04, Vol.5 (4), p.e469-n/a

2024

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Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

JIMD reports, 2020-11, Vol.56 (1), p.82-94

2020

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Rare case of dual diagnosis in consanguineous family: a case report

Clinical dysmorphology, 2021-07, Vol.30 (3), p.164-166

2021

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Incessant left ventricular tachycardia of unusual etiology

Indian pacing and electrophysiology journal, 2016-05, Vol.16 (3), p.104-106

2016

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Unusual Cause of Bidirectional Ventricular Rhythm

JACC. Case reports, 2019-06, Vol.1 (1), p.21-26

2019

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Bidirectional ventricular tachycardia of unusual etiology

Indian pacing and electrophysiology journal, 2015-11, Vol.15 (6), p.296-299

2015

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Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant

Journal of pediatric genetics (Birmingham, Ala.), 2024-03, Vol.13 (1), p.62-68

2024

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Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene

Pediatric nephrology (Berlin, West), 2024-05, Vol.39 (5), p.1421-1425

2024

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Uptake of next‐generation sequencing in children with end‐stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation—Experience from a low resource setting: A Retrospective Cohort Study

Pediatric transplantation, 2021-08, Vol.25 (5), p.e13960-n/a

2021

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Galactosialidosis presenting as non-immune hydrops

BMJ case reports, 2024-10, Vol.17 (10), p.e260906

2024

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Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome

Molecular syndromology, 2021-06, Vol.12 (3), p.141-147

2021

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Role of miRNA polymorphism in recurrent pregnancy loss: a systematic review and meta-analysis

Biomarkers in medicine, 2022-02, Vol.16 (2), p.101-115

2022

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Hydrometrocolpos: antenatal diagnosis and postnatal management

BMJ case reports, 2023-12, Vol.16 (12), p.e253985

2023

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Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population

Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia

Molecular Diagnostics In Metabolic Disorder: A Clinician's Approach

Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort

SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation

Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients

Rare case of dual diagnosis in consanguineous family: a case report

Incessant left ventricular tachycardia of unusual etiology

Unusual Cause of Bidirectional Ventricular Rhythm

Bidirectional ventricular tachycardia of unusual etiology

Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant

Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene

Uptake of next‐generation sequencing in children with end‐stage renal disease secondary to focal segmental glomerulosclerosis and parental decision for kidney transplantation—Experience from a low resource setting: A Retrospective Cohort Study

Galactosialidosis presenting as non-immune hydrops

Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome

Role of miRNA polymorphism in recurrent pregnancy loss: a systematic review and meta-analysis

Hydrometrocolpos: antenatal diagnosis and postnatal management

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