Results 141 to 150 of about 8,142,187 (401)

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Now we’re Cooking with Gas! How Experimental Archaeology Challenges Modern Assumptions about Metal Recycling

EXARC Journal, 2017
It is accepted knowledge that when re-melting alloys, some of the metal with a lower melting temperature is lost through oxidation, and more metal must be added in order to maintain the desired alloy proportions.
E. Giovanna Fregni
doaj  

Settlement ecology of Bronze Age Transylvania

Frontiers in Human Dynamics
The Bronze Age was a time of technological, socioeconomic, and political transformation in Europe. Since Bronze Age socioeconomic institutions were rooted in the landscape, they can be investigated using a settlement ecology approach to how people ...
Colin P. Quinn
doaj   +1 more source

The Oldest Bronze-Age Ceramic Type in Britain; its Close Analogies on the Rhine; its Probable Origin in Central Europe [PDF]

, 1902
John Abercromby
openalex   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Waste Management in Bronze Age Europe

Journal of Landscape Ecology, 2017
This article deals with the relationship between humans and waste in the Bronze Age. Based on selected examples of waste management strategies from the European Bronze Age, it presents an overview of different strategies. In comparison with the preceding
Havlíček Filip, Kuča Martin
doaj   +1 more source

La pointe de lance du type de Tréboul d'Ouzilly (Vienne) [PDF]

, 2013
International audiencePresentation of aMiddle Bronze Age spearhead & its european contextPrésentation d'une pointe de lance du Bronze moyen, dans son contexte ...
Coupey, Anne-Sophie, Gomez de Soto, José, Maitay, Christophe   +2 more
core   +2 more sources

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Comparative pathogenicity of vaccinia virus and mpox virus infections in CAST/EiJ mice: Exploring splenomegaly and transcriptomic profiles

Animal Models and Experimental Medicine, EarlyView.
We successfully constructed CAST/EiJ mice models infected with low‐dose vaccinia virus (VACV‐L), high‐dose VACV (VACV‐H), and mpox virus (MPXV), demonstrating that VACV‐L and MPXV infections induced splenomegaly in mice, and VACV‐H infection caused mortality in mice.
Yongzhi Hou, Jianrong Ma, Baoying Huang, Na Li, Lin Zhu, Ziqing Jia, Jiasen Yang, Jingjing Zhang, Wenjie Tan, Jing Xue   +9 more
wiley   +1 more source

Animal models of lung cancer: Phenotypic comparison of different animal models of lung cancer and their application in the study of mechanisms

Animal Models and Experimental Medicine, EarlyView.
Grafts used to construct lung cancer animal models come from various sources, primarily cell lines, patient‐derived tumor tissues, and circulating tumor cells. Based on the sources of grafts and research objectives, lung cancer animal models can be categorized into several types: chemical‐induced models, orthotopic transplantation models, heterotopic ...
Zixuan Yang, Xianbin Zhao, Lili Tan, Pingxinyi Que, Tong Zhao, Wei Huang, Dejiao Yao, Songqi Tang   +7 more
wiley   +1 more source