Results 211 to 220 of about 140,151 (307)

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy

open access: yesEpilepsia, Volume 66, Issue 6, Page e98-e105, June 2025.
Abstract De novo variants in KCNQ2 cause neonatal onset developmental and epileptic encephalopathy (KCNQ2‐DEE; Online Mendelian Inheritance in Man #613720), most often by loss‐of‐function in vitro effects. In this study, we describe a neonatal onset DEE proband carrying a recurrent de novo KCNQ2 variant (c.794C>T; p.A265V) affecting the pore domain of ...
Ingride Luzio Gaspar   +6 more
wiley   +1 more source

[Patient empowerment and ethics in telemedicine: A view from primary care]. [PDF]

open access: yesAten Primaria
Cárdenas-Ramos M   +5 more
europepmc   +1 more source

The Lost Large Mammals of Arabia

open access: yesJournal of Biogeography, Volume 52, Issue 6, June 2025.
ABSTRACT Aim If successful, plans to restore the vegetation of the Arabian Peninsula (AP) as announced by the Middle East and Saudi Green Initiatives will see the greatest increase in vegetation cover since the beginning of the Holocene Humid Phase (HHP), roughly 9–10,000 years ago.
Christopher Clarke, Sultan M. Alsharif
wiley   +1 more source

Thé au lait, brocolis et salut scout [PDF]

open access: bronze, 2021
Louise Pichard-Bertaux
openalex  

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