Results 81 to 90 of about 1,644,332 (297)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
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, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Des jugements d’enseignants en Éducation musicale

Mesure et Évaluation en Éducation, 2005
Cet article montre que l’évaluation du chant est un problème majeur pour les enseignants en Éducation musicale français. La recherche décrit comment ils utilisent de nombreuses formes de notation et montre que leurs stratégies évaluatives apparaissent ...
Cédricia Maugars
doaj   +1 more source

gCSP: A Graphical Tool for Designing CSP systems [PDF]

, 2004
For broad acceptance of an engineering paradigm, a graphical notation and a supporting design tool seem necessary. This paper discusses certain issues of developing a design environment for building systems based on CSP.
Broenink, Jan F., Jovanovic, Dusko S., Liet, Geert K., Orlic, Bojan   +3 more
core   +4 more sources

Definitions and notation [PDF]

, 1977
Conventional actuarial techniques are largely based on frequencies and the average amounts of claims. For example, if an insurer has a portfolio of N policies at risk and if the expected mean value of the claim frequency for these policies during a specified period is q and the expected average size of the claim is m, then the expected total amount of ...
Robert Eric Beard, Teivo Pentikäinen, Erkki Pesonen   +2 more
openaire   +1 more source

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
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, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
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, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Feasibility and Safety of High‐Dose Proton Re‐Irradiation in Recurrent Pediatric Central Nervous System Tumors: A Single‐Institution Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Pediatric central nervous system (CNS) tumors often recur despite multimodality therapy. Although re‐irradiation (re‐RT) has historically been limited by concerns for severe late toxicities, modern techniques have renewed interest in this approach. Proton therapy provides dosimetric advantages that may enable curative re‐treatment with
Jin‐Ho Song, Jonathan Baron, Carlos Chavez Perez, Sidharth Ramesh, Jane Minturn, Kavita A. Desai, Amish C. Shah, Jean M. Belasco, Kristina A. Cole, Michael J. Fisher, Phillip B. Storm, Peter M. Madsen, Goldie Kurtz, Robert A. Lustig, Christine Hill‐Kayser, Michael J. LaRiviere   +15 more
wiley   +1 more source

Defining Roles in Pediatric Palliative Care: Perspectives From Oncology and Palliative Care Teams

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Early integration of pediatric palliative care (PPC) is associated with improved symptom management, quality of life, and healthcare utilization for children with cancer. Despite this, variation persists in how PPC is understood, operationalized, and integrated within pediatric oncology programs. In particular, ambiguity surrounding
Leeat Granek, Lori Wiener, Stephanie Veldhuijzen van Zanten, Donna Johnston, Fyeza Hasan, Adam Rapoport, Nathasha Datoo, Kimberley Widger, Sumit Gupta, Karen Fergus, Anthony K. C. Chan, Alisha Kassam, Emily McCullogh, Dave Lysecki   +13 more
wiley   +1 more source

Analyzing Visual Mappings of Traditional and Alternative Music Notation

, 2018
In this paper, we postulate that combining the domains of information visualization and music studies paves the ground for a more structured analysis of the design space of music notation, enabling the creation of alternative music notations that are ...
El-Assady, Mennatallah, Häußler, Johannes, Keim, Daniel, Kraus, Matthias, Miller, Matthias   +4 more
core  

Semantic and Structural Difficulties with the Unified Modeling Language Use-Case Notation version 1.3 [PDF]

, 1999
A case study was undertaken to examine and apply the UML use-case notation version 1.3. This study shows that the notation is open to interpretation and the semantics of the use-case relationships are confusing. The attempt to bolt on the object-oriented
Cox, Karl, Phalp, Keith T.
core