Results 61 to 70 of about 1,631,641 (306)

Financial Burden Associated With Hospitalisation Among Families of Childhood Brain Tumours in Australia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Families of children with cancer experience significant financial strain, even with universal healthcare. Indirect costs, such as productivity losses and non‐medical expenses, are rarely included in economic evaluations, and little is known about how effectively financial aid programmes alleviate this burden. Childhood brain tumours
Megumi Lim, Natalie Bradford, David Brain, Sameera Senanayake, Sanjeewa Kularatna, Kate Young, Christine Cashion, Tim Hassall, Susanna Cramb   +8 more
wiley   +1 more source

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Genome Medicine
Background A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants ...
Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch   +9 more
doaj   +1 more source

Resposta ao trabalho de Kent e Santos: "'Os charruas vivem' nos Gaúchos: a vida social de uma pesquisa de 'resgate' genético de uma etnia indígena extinta no Sul do Brasil"

Horizontes Antropológicos, 2012
As atividades oriundas de ações humanas, incluindo pesquisas científicas, são estruturadas sob contextos individuais e coletivos. A artigo de Kent e Santos considera isso num cenário específico, mas ao descreverem tal fato eles também dão margem a ações ...
Maria Cátira Bortolini
doaj   +1 more source

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Genome Medicine, 2022
Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test counseling procedures, patients without a conclusive diagnosis are advised to recontact their referring ...
Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers   +17 more
doaj   +1 more source

Admixture Correction in the Outgroup-f3 Statistic [PDF]

, 2018
Genetic inheritance can be studied within a purely genetic scope. However, this eliminates part of the picture. The field of genetics is often thought of as a natural science with little in common with fields of social science. However, in human genetics
Tunga, Nita
core   +1 more source

Genetics of human obesity [PDF]

Comptes Rendus. Biologies, 2005
We present the knowledge acquired in the field of the genetics of human obesity. The molecular approach proved to be powerful to define new syndromes associated to obesity. The pivotal role of leptin and melanocortin pathways were recognized but in rare obesity cases.
openaire   +4 more sources

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles, Greg Russell, Leila H. DeWitt, Kimberly Montez, Callie L. Brown   +4 more
wiley   +1 more source

Evolution of Genetic Techniques: Past, Present, and Beyond. [PDF]

, 2015
Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century.
Cogulu, O., Demkow, U., Durmaz, A.A., Karaca, E., Schoumans, J., Toruner, G.   +5 more
core   +4 more sources

‘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

The FAIR data point populator: collaborative FAIRification and population of FAIR data points

BMC Medical Informatics and Decision Making
Background Use of the FAIR principles (Findable, Accessible, Interoperable and Reusable) allows the rapidly growing number of biomedical datasets to be optimally (re)used. An important aspect of the FAIR principles is metadata.
Daphne Wijnbergen, Rajaram Kaliyaperumal, Kees Burger, Luiz Olavo Bonino da Silva Santos, Barend Mons, Marco Roos, Eleni Mina   +6 more
doaj   +1 more source