Results 251 to 260 of about 4,671,452 (419)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
Molecular insights into the effect of hydrocarbon gas composition characteristics on tight oil migration. [PDF]
Zhang Y, Dou X, Zhou W, Lu C.
europepmc +1 more source
SGlycosylation Gene Signatures as Prognostic Biomarkers in Glioblastoma
ABSTRACT Objective Glioblastoma (GBM) is an aggressive brain tumor characterized by significant heterogeneity. This study investigates the role of glycosylation‐related genes in GBM subtyping, prognosis, and response to therapy. Methods We analyzed mRNA expression data and clinical information from The Cancer Genome Atlas (TCGA) and Gene Expression ...
Tong Zhao+4 more
wiley +1 more source
Climate, conflict and forced migration
G. Abel+3 more
semanticscholar +1 more source
On the Catalytic Action of Japanese Acid Earth. XI. The Isomerisation of Aldehydes to Ketones and the Explanation of the Migration of the Radicals from the Standpoint of the Electronic Theory [PDF]
Koshiro Ishimura
openalex +1 more source
The full radiostereometric analysis migration pattern of tibial components is associated with aseptic loosening : introducing MTPMemax (MTPM estimated maximum). [PDF]
Pijls BG, Laende EK.
europepmc +1 more source
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman+2 more
wiley +1 more source