Results 101 to 110 of about 7,991 (158)

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases. [PDF]

Mol Genet Metab
Altassan R, Aldhahri SK, Macdonald G, Shah R, Morava E.   +4 more
europepmc   +1 more source

ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling. [PDF]

J Hum Immun
Idani A, Bibi-Triki S, Stemmelen T, Radosavljevic M, Grenot P, Hirschler A, Bernard A, Rosenzwajg M, Yang J, Eischen A, Naegely L, Macquin C, Pichot A, Spinnhirny P, Hanauer A, Alipour-Olayei N, Cherrier T, Kolmer A, Paul N, Olson RJ, Morava E, Miao Z, Carapito C, Rostami P, Parvaneh N, Shahrooei M, Molitor A, Carapito R, Bahram S.   +28 more
europepmc   +1 more source

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +1 more source

Židé a Morava

, 2014
Pálka, Petr 1971-, Muzeum Kroměřížska   +1 more
core  

Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease. [PDF]

Kidney Int Rep
Schecter DR, Tinker RJ, O'Connell P, Pang J, SzeKing Lee S, Kars ME, Guvenek A, Preuss M, Itan Y, Morava E, Kozicz T, Hirano M, Naini A, Ganesh J.   +13 more
europepmc   +1 more source

Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency. [PDF]

J Inherit Metab Dis
Jain A, Budhraja R, Garapati K, Lam C, Schultz MJ, Kozicz T, Morava E, Pandey A.   +7 more
europepmc   +1 more source

<i>Paradiplozoon garra</i> n. sp. (Monogenea, Diplozoidae), a new species from <i>Garra surgifrons</i> (Cyprinidae, Labeoninae) in Southwest China. [PDF]

Parasitology
Shen L, Meng F, Fan L.
europepmc   +1 more source

Increasing volatility of reconstructed Morava River warm-season flow, Czech Republic.

J Hydrol Reg Stud, 2023
Torbenson MCA, Brázdil R, Stagge JH, Esper J, Büntgen U, Vizina A, Hanel M, Rakovec O, Fischer M, Urban O, Treml V, Reinig F, Martinez Del Castillo E, Rybníček M, Kolář T, Trnka M.   +15 more
europepmc   +1 more source

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported <i>UQCRC2</i>-Associated Phenotype. [PDF]

Cells
Preston G, Shammas I, Pinto E Vairo F, Ligezka A, Aschoff CAM, Poswar F, Schwartz IVD, Kozicz T, Morava E.   +8 more
europepmc   +1 more source

Resolving Hexose-Phosphates by LC-MS Leads to New Insights in PGM1-CDG Pathophysiology. [PDF]

ACS Omega
Driesen K, De Craemer S, Morava E, Cassiman D, Witters P, Ghesquière B.   +5 more
europepmc   +1 more source