Filters

Virginia Kimonis, Ana Töpf, Oliver P Guttmann, Pier D Lambiase, Elizabeth Harris, Barbara Tedesco, Angelo Poletti, Matthew B Harms, Volker Straub, Chiara Marini-Bettolo, Margherita Milone, Vincent Timmerman, Stojan Peric, Goknur Selen Kocak, Jiayan Tan, Han Duong, Vidosava Rakocevic-Stojanovic, Sanja Milenkovic, Yolande Parkhurst, Liliane Gibbs, Angela Martin-Rios, Vukan Ivanovic, Veronica Marchesi

European journal of human genetics : EJHG 2025;33(8):1015-1024

Free Full Text

Abstract

Results: 1 – 15 / 84

Filters

Expert Opinion

Text Availability

Publication Types

Publication Year

Results for ""Frameshift Mutation""[mesh_terms]

A new variant in logopenic variant primary progressive aphasia: a case report and literature review.

A new frame-shifting mutation of UGT1A1 gene causes type I Crigler-Najjar syndrome.

PHIP gene variants with protein modeling, interactions, and clinical phenotypes.

Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.

Novel mutation in causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.

A frameshift mutation in the gene in a family with Liddle syndrome: A case report and systematic review.

Brugada syndrome in a patient with AKAP9 mutation: Case report and review of the literature.

A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature.

Catastrophe and what to do about it if you are a bacterium: the importance of frameshift mutants.

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.

Neuropathology and genetics of cerebroretinal vasculopathies.

A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.

Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in associated with beta-propeller protein-associated neurodegeneration.

A novel fibrinogen γ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis.

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models.

Results for
""Frameshift Mutation""[mesh_terms]