Results 81 to 90 of about 4,810,563 (312)
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Reflecting Disaster Risk in Development Indicators [PDF]
Disasters triggered by hazards, such as floods, earthquakes, droughts, and cyclones, pose significant impediments to sustainable development efforts in the most vulnerable and exposed countries.
Mochizuki, Junko, Naqvi, Syed Ali Asjad
core +1 more source
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu +8 more
wiley +1 more source
GLOBAL IMBALANCES, RISKS AND ECONOMIC SECURITY OF RUSSIA
Article Retracted.This paper proposes an approach to the study of the impact of global imbalances and external economic risks for the Russian economy and its level of economic security.
V. K. Senchagov, A. I. Soloviev
doaj
The organization of integrated municipal waste management system at the regional level requires a preliminary assessment of the current situation to make principal decisions.
O.V. Khandogina, N.Yu. Mushchynska
doaj +1 more source
Application of Natural Resources Indicators to Agricultural Land Management in Slovenia [PDF]
Th e group of indicators to establish the impact of land management measures on natural resources in the agricultural landscapes in Slovenia is discussed and identifi ed.
Andreja Borec, Branko Kramberger
core +2 more sources
A review of the literature on citation impact indicators
Citation impact indicators nowadays play an important role in research evaluation, and consequently these indicators have received a lot of attention in the bibliometric and scientometric literature.
Waltman, Ludo
core +1 more source
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee +9 more
wiley +1 more source
Este trabalho apresenta um método para a análise de projetos candidatos à implantação em Unidades de Conservação, que usa a operação dos principais indicadores da economia, sociologia e ecologia, por meio da lógica fuzzy.
Sandro Medeiros +2 more
doaj +1 more source
Subjective indicators have been proven to possess predictive power for a large array of social and economic outcomes. However, most of these measures face serious psychometric shortcomings, namely that the items used are not psychometrically investigated.
Beatrice Rammstedt
core

