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Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing

Journal of clinical immunology, 2021-02, Vol.41 (2), p.393-413

2021

Volltextzugriff (PDF)

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India

Frontiers in immunology, 2021-02, Vol.12, p.631298

2021

Volltextzugriff (PDF)

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

Frontiers in immunology, 2021-03, Vol.12, p.630691-630691

2021

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A novel deletion of β-globin promoter causing high HbA2 in an Indian population

Haematologica (Roma), 2012-09, Vol.97 (9), p.1445-1447

2012

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Chorionic villous sampling through transvaginal ultrasound approach: A retrospective analysis of 1138 cases

The journal of obstetrics and gynaecology research, 2016-10, Vol.42 (10), p.1229-1235

2016

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Two cases of CARD14‐associated papulosquamous eruption from India

Pediatric dermatology, 2020-07, Vol.37 (4), p.692-694

2020

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Decreased Iron Utilization Leads to Dysregulation of Iron Homeostasis in Aplastic Anemia

Blood, 2018-11, Vol.132 (Supplement 1), p.3872-3872

2018

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Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy

Blood cells, molecules, & diseases, 2023-03, Vol.99, p.102727-102727, Article 102727

2023

Volltextzugriff (PDF)

Corrigendum to “Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy” [Blood Cells Mol. Dis. 99 (2023) 102727]

Blood cells, molecules, & diseases, 2023-07, Vol.101, p.102744-102744, Article 102744

2023

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A Model-Informed Precision Busulfan Dosing in Pediatric Patients Undergoing Hematopoietic Cell Transplantation- Real-World Data

Blood, 2022-11, Vol.140 (Supplement 1), p.4743-4744

2022

Volltextzugriff (PDF)

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing

Journal of clinical immunology, 2021-02, Vol.41 (2), p.393-413

2021

Volltextzugriff (PDF)

Germline Variants Contribute Significantly to the Pathogenesis of Aplastic Anemia in India

Blood, 2021-11, Vol.138 (Supplement 1), p.1105-1105

2021

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Communication of Placental Iron Trafficking Proteins with Maternal and Fetal Iron Regulators

Blood, 2018-11, Vol.132 (Supplement 1), p.3629-3629

2018

Volltextzugriff (PDF)

Marginally reduced maternal hepatic and splenic ferroportin under severe nutritional iron deficiency in pregnancy maintains systemic iron supply

American journal of hematology, 2021-06, Vol.96 (6), p.659-670

2021

Volltextzugriff (PDF)

Immunophenotype, Karyotype and Molecular Findings in a Case of ICF Syndrome

Indian journal of hematology & blood transfusion, 2023-07, Vol.39 (3), p.510-512

2023

Volltextzugriff (PDF)

Higher Incidence of Graft Rejection in Non-Sibling Fully Matched Related Donor Stem Cell Transplants for Thalassemia Major: A Cautionary Note

Blood, 2018-11, Vol.132 (Supplement 1), p.2178-2178

2018

Volltextzugriff (PDF)

Treosulfan Metabolite (S, S-EBDM) Pharmacokinetics Influences Regimen Related Toxicity in Patients with Beta Thalassaemia Major Undergoing HSCT

Blood, 2019-11, Vol.134 (Supplement_1), p.1977-1977

2019

Volltextzugriff (PDF)

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent

Journal of clinical pathology, 2021-03, Vol.74 (3), p.157

2021

Volltextzugriff (PDF)

Donor Telomere Length Influences Engraftment and Outcome in Aplastic Anemia Patients Undergoing Matched Related Stem Cell Transplantation

Blood, 2017-12, Vol.130, p.1184-1184

2017

Volltextzugriff (PDF)

Telomere Length Is Significantly Reduced in Patients with Aplastic Anemia and Is Not Influenced By Gender and Severity

Blood, 2017-12, Vol.130, p.4964-4964

2017

Volltextzugriff (PDF)

Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants

Indian journal of hematology & blood transfusion, 2024-07, Vol.40 (3), p.494-503

2024

Volltextzugriff (PDF)

Targeted IV Vs Oral Busulfan in Very Young Children with Thalassemia Major Undergoing Matched Allogeneic Haematopoietic Stem Cell Transplantation

Blood, 2018-11, Vol.132 (Supplement 1), p.5707-5707

2018

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Molecular Basis of Von Willebrand Disease in Patients from India

Blood, 2015-12, Vol.126 (23), p.1102-1102

2015

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Molecular Basis Of (δβ)0 Thalassaemia and HPFH In Indian Population and The Role Of Non-Coding Transcripts In Increased Foetal Hemoglobin In Adults

Blood, 2013-11, Vol.122 (21), p.3446-3446

2013

Volltextzugriff (PDF)

A Robust Ex-Vivo Erythropoiesis System For Studying Transcriptional Regulation Of Globin Genes In Thalassaemia

Blood, 2013-11, Vol.122 (21), p.2259-2259

2013

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Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience

A novel deletion of β-globin promoter causing high HbA2 in an Indian population

Chorionic villous sampling through transvaginal ultrasound approach: A retrospective analysis of 1138 cases

Two cases of CARD14‐associated papulosquamous eruption from India

Decreased Iron Utilization Leads to Dysregulation of Iron Homeostasis in Aplastic Anemia

Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy

Corrigendum to “Impact of maternal iron deficiency anemia on fetal iron status and placental iron transporters in human pregnancy” [Blood Cells Mol. Dis. 99 (2023) 102727]

A Model-Informed Precision Busulfan Dosing in Pediatric Patients Undergoing Hematopoietic Cell Transplantation- Real-World Data

Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing

Germline Variants Contribute Significantly to the Pathogenesis of Aplastic Anemia in India

Communication of Placental Iron Trafficking Proteins with Maternal and Fetal Iron Regulators

Marginally reduced maternal hepatic and splenic ferroportin under severe nutritional iron deficiency in pregnancy maintains systemic iron supply

Immunophenotype, Karyotype and Molecular Findings in a Case of ICF Syndrome

Higher Incidence of Graft Rejection in Non-Sibling Fully Matched Related Donor Stem Cell Transplants for Thalassemia Major: A Cautionary Note

Treosulfan Metabolite (S, S-EBDM) Pharmacokinetics Influences Regimen Related Toxicity in Patients with Beta Thalassaemia Major Undergoing HSCT

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent

Donor Telomere Length Influences Engraftment and Outcome in Aplastic Anemia Patients Undergoing Matched Related Stem Cell Transplantation

Telomere Length Is Significantly Reduced in Patients with Aplastic Anemia and Is Not Influenced By Gender and Severity

Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants

Targeted IV Vs Oral Busulfan in Very Young Children with Thalassemia Major Undergoing Matched Allogeneic Haematopoietic Stem Cell Transplantation

Molecular Basis of Von Willebrand Disease in Patients from India

Molecular Basis Of (δβ)0 Thalassaemia and HPFH In Indian Population and The Role Of Non-Coding Transcripts In Increased Foetal Hemoglobin In Adults

A Robust Ex-Vivo Erythropoiesis System For Studying Transcriptional Regulation Of Globin Genes In Thalassaemia

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