Results 111 to 120 of about 6,962,642 (291)
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu +10 more
wiley +1 more source
AMČR - archeologický záznam C-9116649A
Stav: 3Označení: ARÚ Praha 2085/1994Lokalizace/okolnosti: Zaniklý hrad neznámého jména na ostrožně nad vtokem potoka do Sázavy proti hradu Zlenice.Souhrn/upřesnění: V letech 1994-2009 probíhala téměř každoroční revize stavu hradu spojená s povrchovými ...
https://api.aiscr.cz/id/OS-003492 +1 more
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Animal Production: Indonesian Journal of Animal Production, 2010 Interleukin-8 (IL-8) receptor gene is response to bacterial invasion, endothelial and epithelial cells by release the chemokine interleukin-8 (IL-8). IL-8 mediates neutrophil function, allowing neutrophils to resolve bacterial infections by migrating ...
A Winaya, ID Rahayu
doaj
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
AMČR - archeologický záznam C-9146300A
Stav: 3Označení: ARÚ Praha 3349/2003Lokalizace/okolnosti: SV obce mezi Rokytkou a jejím levým přítokem Hostavickým potokem, poloha Vidlák. Podnět: inženýrské sítě.Souhrn/upřesnění: Neohlášená stavební činnost při budování kanalizační stoky a retenční ...
https://api.aiscr.cz/id/OS-006105 +1 more
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ECUACIONES ACOPLADAS EN SISTEMAS DÉBILMENTE LIGADOS
Anales (Asociación Física Argentina), 2014 El formalismo de ecuaciones acopladas, usado en la teoría de reacciones nucleares, es muy útil para el estudio de la estructura de los núcleos. Para el caso particular de núcleos inestables o débilmente ligados las correlaciones con el espectro continuo ...
R M Id Betan
doaj
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
AMČR - archeologický záznam C-9106460A
Stav: 3Lokalizace/okolnosti: Pražská ulice, prostor mezi Masnými krámy (čp. 353) a bývalou vodárnou (čp. 309), suterén vodárny. Podnět: jiný podnět.Souhrn/upřesnění: Sondáž a průzkum podzemí v souvislosti s havárií vozovky Pražské ulice.
https://api.aiscr.cz/id/ORG-000042 +1 more
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PAR DE COOPER EN EL NUCLEO BORROMEANO 11Li
Anales (Asociación Física Argentina), 2016 Dos neutrones en el espacio libre no forman un sistema ligado pero si lo hacen en los nucleos Borromeanos. El objetivo de este art ́ıculo es investigar la fuerza de apareamiento de dos neutrones en el nucleo Borromeano 11Li usando la densidad de ...
Rodolfo M Id Betan
doaj