Results 131 to 140 of about 7,991 (158)

ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines. [PDF]

Mol Genet Metab
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E.   +12 more
europepmc   +1 more source

N-glycoproteomic and proteomic alterations in SRD5A3-deficient fibroblasts. [PDF]

Glycobiology
Garapati K, Ranatunga W, Joshi N, Budhraja R, Sabu S, Kantautas KA, Preston G, Perlstein EO, Kozicz T, Morava E, Pandey A.   +10 more
europepmc   +1 more source

A systematic review on the biochemical threshold of mitochondrial genetic variants. [PDF]

Genome Res
Smith KK, Moreira JD, Wilson CR, Padera JO, Lamason AN, Xue L, Gopal DM, Flynn DB, Fetterman JL.   +8 more
europepmc   +1 more source

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation. [PDF]

Cell Mol Life Sci
Jáñez Pedrayes A, De Craemer S, Idkowiak J, Verdegem D, Thiel C, Barone R, Serrano M, Honzík T, Morava E, Vermeersch P, Foulquier F, Morelle W, Swinnen JV, Rymen D, Cassiman D, Ghesquière B, Witters P.   +16 more
europepmc   +1 more source

Coagulation abnormalities and vascular complications are common in PGM1-CDG. [PDF]

Mol Genet Metab
Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E.   +6 more
europepmc   +1 more source

Do the Ecoregions Support Distinct Hilly and Mountain Stream Chironomid Assemblages in South-East Europe? [PDF]

Insects
Ergović V, Simović P, Koh M, Milošević D, Čerba D, Petrović A, Mihaljević Z.   +6 more
europepmc   +1 more source

Putative role of TMEM165 in congenital cardiomyopathies. [PDF]

Front Mol Neurosci
Gonçalves PP.
europepmc   +1 more source

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker. [PDF]

Front Genet
Martínez Duncker I, Mata-Salgado D, Shammas I, Ranatunga W, Daniel EJP, Cruz Muñoz ME, Abreu M, Mora-Montes H, He M, Morava E, Zafra de la Rosa G.   +10 more
europepmc   +1 more source

The mod 2 Hopf ring for connective Morava K-theory

Journal of Homotopy and Related Structures, 2015
This paper examines the mod 2 homology of the spaces in the Omega-spectrum for connective Morava K-theory, i.e., the mod 2 Hopf ring for connective Morava K-theory.
Paul Thomas Pearson
exaly   +2 more sources

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All extensions of $C_2$ by $C_{2^n} \times C_{2^n}$ are good for the Morava $K$-theory

Hiroshima Mathematical Journal, 2020
Malkhaz Bakuradze
exaly