Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Sebastian A. Vishnopolska

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

Movement Disorders Clinical Practice

English

Related publications

TRIAD3/RNF216 E3 Ligase Specifically Synthesises K63-Linked Ubiquitin Chains and Is Inactivated by Mutations Associated With Gordon Holmes Syndrome

Cell Death Discovery

Cancer Research

Molecular Neuroscience

English

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

Clinical Pediatric Endocrinology

English

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

Pediatric Blood and Cancer

English

Hyperimmunoglobulinaemia D Syndrome in India: Report of Two Siblings With a Novel Mutation

Annals of the Rheumatic Diseases

Molecular Biology

English

Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain

Journal of Medical Genetics

English

Gillespiе Syndrome, Caused by Previously Undescribed Mutation in the Gene ITPR1

Russkii Zhunal Detskoi Nevrologii

English

Holmes-Adie Syndrome

Ophthalmology Journal

English

Holmes-Gang Syndrome

English

IPEX Syndrome in Siblings With a Novel Variant in FOXP3

Journal of Allergy and Clinical Immunology

English