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Publications by Richard Beswick

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

Blood

English

Related publications

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

Ophthalmic Surgery Lasers and Imaging Retina

English

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

2008

English

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

English

Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

New England Journal of Medicine

Medicine

2005

English

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

American Journal of Human Genetics

Genetics

2013

English

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

English

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics

Genetics

2014

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

Genetics

2010

English

One-Step Noninvasive Prenatal Testing (NIPT) for Autosomal Recessive Homozygous Point Mutations Using Digital PCR

Scientific Reports

Multidisciplinary

2018

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Richard Beswick

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

Related publications

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

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

Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy

Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

One-Step Noninvasive Prenatal Testing (NIPT) for Autosomal Recessive Homozygous Point Mutations Using Digital PCR