Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Trudy N. Small
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
Related publications
Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome
Blood
Biochemistry
Immunology
Cell Biology
Hematology
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita
Ophthalmic Surgery Lasers and Imaging Retina
Medicine
Ophthalmology
Surgery
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
The DNA Helicase RTEL1 Is Essential for Telomere Replication
Cancer Discovery
Oncology
Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.
Journal of Clinical Investigation
Medicine
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency
Frontiers in Immunology
Allergy
Immunology
A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families
Journal of Human Genetics
Genetics
Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
