Results 161 to 170 of about 1,779,244 (346)
BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
Desiccation-Tolerant Vascular Plants: A Group of Species Largely Neglected in Conservation. [PDF]
Plants (Basel)Seidou WI +3 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of variant characteristics on clinical phenotypes required for early ...
Jia Wang +11 more
wiley +1 more source
Cultural identity: an osmosis but also a distinction between identical and diverse
Conservation Science in Cultural Heritage, 2017 Salvatore Lorusso, Mauro Mantovani
doaj +1 more source
Species richness prediction and priority conservation planning for rare Michelia species in China. [PDF]
Sci RepTang J +6 more
europepmc +1 more source
Forests considered in their relation to rainfall and the conservation of moisture
, 1902 J. H. Maiden
openalex +2 more sources
Preliminary maps and reports released by the Geologic Division, 1946-47, and by the Conservation Division, 1938-47 [PDF]
, 1949 Ruth A. Atherton +2 more
openalex +1 more source