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Publications by John D'Orazio

Dyskeratosis Congenita Caused by a Novel TERT Point Mutation in Siblings With Pancytopenia and Exudative Retinopathy

Pediatric Blood and Cancer

English

Related publications

Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Clinical Pediatric Endocrinology

English

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

Ophthalmic Surgery Lasers and Imaging Retina

English

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Movement Disorders Clinical Practice

English

Dyskeratosis Congenita With a Novel Genetic Variant in the DKC1 Gene: A Case Report

BMC Medical Genetics

English

A Vietnamese Case of Dyskeratosis Congenita

Our Dermatology Online

English

Advances in the Understanding of Dyskeratosis Congenita

British Journal of Haematology

English

The Diagnosis and Treatment of Dyskeratosis Congenita: A Review

Journal of Blood Medicine

English

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

Endocrine Abstracts

English

Neuropsychiatric Conditions Among Patients With Dyskeratosis Congenita: A Link With Telomere Biology?

Applied Psychology

English