Results 121 to 130 of about 7,991 (158)

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG. [PDF]

Cells
Shah R, Budhraja R, Radenkovic S, Preston G, King AT, Sabry S, Bleukx C, Shammas I, Young L, Chandran J, Byeon SK, Hrstka R, Smith DY, Staff NP, Drake R, Sloan SA, Pandey A, Morava E, Kozicz T.   +18 more
europepmc   +1 more source

Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. [PDF]

Am J Med Genet A
Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S.   +11 more
europepmc   +1 more source

Tracking reservoir warming in a changing climate: A 31-year study from Czechia. [PDF]

Environ Sci Ecotechnol
Znachor P, Kosour D, Rederer L, Koza V, Kolář V, Nedoma J.   +5 more
europepmc   +1 more source

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 more
europepmc   +1 more source

N-Acetyl-Aspartyl Glutamic Acid (NAAGA)-Based Eye Drops for Contact Lens Wearers with Dry Eye Symptoms and Discomfort. [PDF]

Vision (Basel)
Misheva I, Daskalov V, Dzhelebov D, Ilieva K, Kermedchieva R, Topchiyska M, Yanev P, Grupcheva C.   +7 more
europepmc   +1 more source

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>. [PDF]

Cells
Radenkovic S, Adant I, Bird MJ, Swinnen JV, Cassiman D, Kozicz T, Gruenert SC, Ghesquière B, Morava E.   +8 more
europepmc   +1 more source

Normal transferrin glycosylation does not rule out severe ALG1 deficiency. [PDF]

JIMD Rep
Bosnyak I, Sadek M, Ranatunga W, Kozicz T, Morava E.   +4 more
europepmc   +1 more source

Causes of mortality in the congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Alharbi H, Horikoshi S, Jenkins SM, Scaglia F, Lam C, Morava E, Larson A, Edmondson AC.   +7 more
europepmc   +1 more source

Helminth diversity of nutria (<i>Myocastor coypus</i>) across the Morava basin in the Czech Republic. [PDF]

Parasitology
Benovics M, Nosková E, Klimešová A, Škorpíková L, Jaššová E, Drimaj J, Slováček J, Mikulka O.   +7 more
europepmc   +1 more source

Diversity Drivers of Inland Saline Vegetation-What Unites Them and Divides Them? [PDF]

Ecol Evol
Dítě Z, Šuvada R, Tóth T, Dítě D.
europepmc   +1 more source