Results 51 to 60 of about 1,294,292 (311)
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
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
Who are we? The question of human nature seems to haunt all disciplines. That may tell us how very “human” the question is. Answers vary widely. Yet scientists—anthropologists, geneticists, ethologists, and developmental and evolutionary biologists—rely on observations and empirical data. Their conclusions thus seem more objective. Biologically, humans
openaire +1 more source
Recent Trends in Funding for the Academic Humanities and Their Implications [PDF]
[Excerpt] Never abundant, financial support for the “academic humanities” is now scarce. How scarce it is, both in absolute and relative terms, and whether the humanities now confront particularly hard times, are the pressing questions. To piece together
Ehrenberg, Ronald G, Zuckerman, Harriet
core +2 more sources
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
DHBeNeLux : incubator for digital humanities in Belgium, the Netherlands and Luxembourg [PDF]
Digital Humanities BeNeLux is a grass roots initiative to foster knowledge networking and dissemination in digital humanities in Belgium, the Netherlands, and Luxembourg.
Chambers, Sally +4 more
core
The special issue attempts to understand what happens to cultures whose expression was linked to the written word and the book by Western modernity.
Dominique Vinck, Claire Clivaz
doaj +1 more source
ABSTRACT Background Survivors of childhood acute lymphoblastic leukemia (ALL) often exhibit early deficits in muscle and movement competence, which can compromise long‐term health. Integrative neuromuscular training (INT), a multifaceted approach combining fundamental movement activities with strength exercises, may help address these deficits during ...
Anna Maria Markarian +7 more
wiley +1 more source

