Results 11 to 20 of about 404 (182)
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
Geophysical Monograph Series, Page 263-304., 2021 Exploring the links between Large Igneous Provinces and dramatic environmental impact
An emerging consensus suggests that Large Igneous Provinces (LIPs) and Silicic LIPs (SLIPs) are a significant driver of dramatic global environmental and biological changes, including mass extinctions.
Jessica H. Whiteside +3 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Hadrosaurid dinosaurs are generally regarded as “crested” or “non‐crested” depending on the presence or absence of a bony cranial crest. At least one supposedly “non‐crested” hadrosaur is known to have possessed a soft tissue cranial crest (or comb), based on an exceptionally preserved “mummified” specimen. Here we redescribe this specimen and
Henry S. Sharpe +4 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Arhinolemur scalabrinii† Ameghino, 1898 was originally described as a strepsirrhine primate (Mammalia) but has been recognized as an anostomid fish since 2012. It remains the only extinct anostomid species known from complete cranial material.
Karen M. Panzeri +8 more
wiley +1 more source
How wildlife respond to tropical cyclones: short‐term tactics and long‐term impacts
Biological Reviews, EarlyView.ABSTRACT From butterflies to lizards and from sharks to seabirds, wildlife exhibit tactics to survive the impacts of tropical cyclones, also known as hurricanes, cyclones, or typhoons depending on where they occur. Some species seek refuge during the storm by moving, some remain in place and ride it out, and others move longer distances, avoiding the ...
Erin L. Koen +15 more
wiley +1 more source
Influence of the surface roughness of coated and uncoated papers on the digital print mottle
Journal of Graphic Engineering and Design, 2014 Many factors influence the occurrence of print mottle in prints. In printing process three main components are involved: printing press, substrate and toner.
Ivana Jurič +3 more
doaj
Orchard netting impacts on biodiversity leading to cascading effects at the ecosystem level
Biological Reviews, EarlyView.ABSTRACT Agriculture must ensure food production without further compromising the ecosystem functions upon which it depends. Agricultural practices should therefore avoid harming farmland biodiversity, especially of taxa that supply the key ecosystem services (e.g.
Corrado Alessandrini +13 more
wiley +1 more source
Applied SciencesThis study investigates the impact of zirconium-based KZC series crosslinkers with varying zirconium contents and the polyamine-based crosslinker (PBC) on the properties of coated paper, focusing on key performance metrics such as viscosity, wet rub and ...
Hyeong-Hun Park +5 more
doaj +1 more source