Search Results - "Loria JS"

The Analysis of the FIX-inhibitor Risks Associated With the F9 Genotype in Patients With Haemophilia B Exposes the Involvement of Nonsense Mediated-decay: Argentinean and International Series.

Authors: Ziegler BM Abelleyro MM Villegas ME et al.

Source: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2026 Jul 20. Date of Electronic Publication: 2026 Jul 20.

Publication Type: Journal Article

Journal Info: Publisher: Blackwell Science Country of Publication: England NLM ID: 9442916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2516 (Electronic) Linking ISSN: 13518216 NLM ISO Abbreviation: Haemophilia Subsets: MEDLINE

NAXD Encephalopathy Mimicking Neuroinflammatory Disease.

Authors: Garcia RV Aráoz HV Pérez MM et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Apr; Vol. 200 (4), pp. 854-861. Date of Electronic Publication: 2025 Nov 30.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE