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Publications by Saurav De

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

PLoS Genetics

English

B Cell-Intrinsic Role for IRF5 in TLR9/BCR-Induced Human B Cell Activation, Proliferation, and Plasmablast Differentiation

Frontiers in Immunology

Allergy

Immunology

2018

English

Related publications

Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome

English

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

Ophthalmic Surgery Lasers and Imaging Retina

English

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

2010

English

The DNA Helicase RTEL1 Is Essential for Telomere Replication

Cancer Discovery

Oncology

2013

English

Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.

Journal of Clinical Investigation

Medicine

1992

English

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

English

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology

Allergy

Immunology

2017

English

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

Genetics

2006

English

Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1

Journal of the American Society of Nephrology : JASN

Medicine

Nephrology

2011

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Saurav De

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

B Cell-Intrinsic Role for IRF5 in TLR9/BCR-Induced Human B Cell Activation, Proliferation, and Plasmablast Differentiation

Related publications

Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

The DNA Helicase RTEL1 Is Essential for Telomere Replication

Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1