Results 191 to 200 of about 51,586 (301)

Case report: a rare BRCA1 de novo variant in a female with breast cancer. [PDF]

Hered Cancer Clin Pract
Dencker C, Strehlow V, Aktas B, Lemke J, Hentschel J.   +4 more
europepmc   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Elevating relevance of autoethnography in palliative care research. [PDF]

Palliat Support Care
Wibisono HK, Juliyanto AP, Yusroni A, Anwar MK, Rosa NS, Rosdiana W.   +5 more
europepmc   +1 more source

Triple Bottom Line (TBL) Perspective on the Business–Environment–Performance Nexus in an Emerging Market Economy

Business Ethics, the Environment &Responsibility, EarlyView.
ABSTRACT Sustainability has become a defining challenge for firms in emerging economies, where pressures to address environmental and social concerns increasingly intersect with the need to remain financially competitive. Yet many organizations struggle to show whether sustainability disclosures create measurable business value, particularly in complex
Li KaoDui, Maxwell Kongkuah, Ummar Faruk Saeed, Noha Alessa   +3 more
wiley   +1 more source

Anomalous Right Coronary Artery Arising from the Pulmonary Artery in an Asymptomatic Pediatric Patient. [PDF]

CASE (Phila)
Barros A, Epley M, Poletto E, Nees S, Weinberger S, Luceri M.   +5 more
europepmc   +1 more source

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort

British Journal of Haematology, EarlyView.
Targeted next‐generation sequencing combined with a structured interpretative framework integrating gene–disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying ...
Alessandra Giannella, Fabrizio Vianello, Simone Zoletto, Arianna Magrini, Ilaria Gianesello, Gianni Binotto, Nicolo’ Danesin, Jessica Ceccato, Giulia Gualtiero, Maria Piazza, Samuela Carraro, Valeria Carabotta, Francesco Cinetto, Alessandro Cellini, Marco Carraro, Carmela Gurrieri, Laura Pavan, Francesco Piazza, Andrea Visentin, Walter Ageno, Livio Trentin, Giulio Ceolotto   +21 more
wiley   +1 more source

Cousin Belle. TLC 16

"Cousin Belle" TLC ...
Thomason, John W. (John William), 1893-1944
core  

Quelle place pour le travail ?

Revue Interventions Économiques, 2011
Olivier Cousin
doaj   +1 more source

First evidence of polyandry for amazonian stingray (Potamotrygon wallacei Carvalho, Rosa & Araújo 2016) based on genome-wide SNP data. [PDF]

Mol Biol Rep
da Silva LES, Bittencourt PST, de Lima Muniz F, Duncan WLP, Hrbek T, Farias IP.   +5 more
europepmc   +1 more source

A grounded theory of the process of social transition in a family context from the perspective of gender diverse young people and their parents

Child and Adolescent Mental Health, EarlyView.
Background Some gender diverse young people (GDYP) socially transition—a process of changing from living as the gender that they were assigned at birth to another gender, through social means. Whilst the role of the whole family in the social transitions of GDYP has been indicated, there is a lack of applicable theory and research on the processes of ...
Sophie Razzel, Simon Levinson, Trish Joscelyne   +2 more
wiley   +1 more source