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Publications by Anna Marrone
Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome
Blood
Biochemistry
Immunology
Cell Biology
Hematology
Related publications
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita
Ophthalmic Surgery Lasers and Imaging Retina
Medicine
Ophthalmology
Surgery
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
Phenotype in Homozygous and Heterozygous Carriers of BEST1 Mutations in Autosomal Recessive Bestrophinopathy
Acta Ophthalmologica
Medicine
Ophthalmology
Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic Anemia
New England Journal of Medicine
Medicine
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
American Journal of Human Genetics
Genetics
A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
American Journal of Human Genetics
Genetics
One-Step Noninvasive Prenatal Testing (NIPT) for Autosomal Recessive Homozygous Point Mutations Using Digital PCR
Scientific Reports
Multidisciplinary