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Publications by M. Digweed

Mutations in the Telomerase Component NHP2 Cause the Premature Ageing Syndrome Dyskeratosis Congenita

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

Multidisciplinary

English

Nibrin Functions in Ig Class-Switch Recombination

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

Multidisciplinary

English

Related publications

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

American Journal of Human Genetics

English

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

English

Advances in the Understanding of Dyskeratosis Congenita

British Journal of Haematology

English

Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome

Journal of the American Society of Nephrology : JASN

English

A Vietnamese Case of Dyskeratosis Congenita

Our Dermatology Online

English

The Diagnosis and Treatment of Dyskeratosis Congenita: A Review

Journal of Blood Medicine

English

Mutations in KIRREL1, a Slit Diaphragm Component, Cause Steroid-Resistant Nephrotic Syndrome

Kidney International

English

Reconsidering the Indication of Haematopoietic Stem Cell Transplantation for Dyskeratosis Congenita

British Journal of Haematology

English

Outcome of Haematopoietic Stem Cell Transplantation in Dyskeratosis Congenita

British Journal of Haematology

English