Results 201 to 210 of about 1,616,308 (355)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
The significance that space studies are making to all Earth sciences in the areas of geography, geodesy, cartography, geology, meteorology, oceanology, agronomy, and ecology is discussed.
Sidorenko, A. V.
core +1 more source
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah+6 more
wiley +1 more source
Summary: Mohr diagrams are a simple and effective method that can help geoscientists consider, model, and predict the ranges of mechanical properties of rock, stresses, fluid pressures, and the resultant fractures that are likely to occur in the sub ...
D.C.P. Peacock+2 more
doaj
Earth sciences waste disposal investigations, July--December 1965
J.R. Eliason
openalex +2 more sources
Worldwide directory of national earth-science agencies [PDF]
Wenonah E. Bergquist+3 more
openalex +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier+20 more
wiley +1 more source
Activities in planetary geology for the physical and earth sciences [PDF]
A users guide for teaching activities in planetary geology, and for physical and earth sciences is presented. The following topics are discussed: cratering; aeolian processes; planetary atmospheres, in particular the Coriolis Effect and storm systems ...
Dalli, R., Greeley, R.
core +1 more source