Search Results - "Matheny-Rabun C"

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

Authors: Matheny-Rabun C Holloway L Corning K et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2026 Apr 24; Vol. 11 (1). Date of Electronic Publication: 2026 Apr 24.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder.

Authors: Matheny-Rabun C Mokashi SS Radenkovic S et al.

Source: Cell reports [Cell Rep] 2024 Nov 26; Vol. 43 (11), pp. 114976. Date of Electronic Publication: 2024 Nov 18.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE