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Clinical genetics

Diagnostic performance of discriminant formulas and machine learning models for detecting β-thalassemia trait in Bangladesh

Rumana Mahtarin, Kasrina Azad, [ ... ], A. H. M. Nurun Nabi

Echocardiographic characterization and markers of cardiovascular risk in adults with sickle cell disease in a Colombian tertiary referral centre: A cross-sectional study

Martin E. Arrieta-Mendoza, Juan R. Betancourt, [ ... ], Oswaldo E. Aguilar-Molina

Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review

Taichi Ochi, Manon G. den Uil, [ ... ], Talitha L. Feenstra

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3)

Camille Level, Laurence Faivre, [ ... ], Christine Peyron

Phonological awareness in Urdu language speaking children with down syndrome (DS)

Maimoona Khalil, Nazia Mumtaz, Ghulam Saqulain, Farheen Naz Anis

Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation

Marion E. Cahill, Kathryn Chmelik, [ ... ], Wen-Tao Deng

Trends in the burden of sickle cell disorders in Sierra Leone, 1990–2023: An analysis of Global Burden of Disease Study 2023 estimates

Monalisa M. J. Faulkner, Fatima Jalloh, [ ... ], Mohamed B. Jalloh

Prevalence of multiple morbidities and cancers in individuals with Down syndrome: A matched descriptive study using linked electronic health record data

Caoimhe McKenna, Kabir Yoshinori Khanna, [ ... ], Logan Manikam

School absenteeism among children and adolescents aged 6–19 years with sickle cell disease in Uganda: A comparative cross-sectional study

Juliane Peninah Nattimba, Sabrina Bakeera-Kitaka, [ ... ], Thereza Piloya

Comparison of dose-adjusted EPOCH-R and R-CHOP in diffuse large B-cell lymphoma with high Ki67 expression: Results from a prospective observational study

Wenxin Jiang, Peng Liu

Cost-effectiveness of stem cell therapy versus standard of care for acute and subacute ischemic stroke

Soichiro Takamiya, Yasuhiro Morii, [ ... ], Miki Fujimura

Views of the Swiss public towards gene editing

Kelly E. Ormond, Sara Kijewski, [ ... ], Effy Vayena

Ontogenetic shifts in morphology and ecology of eastern Pacific white sharks revealed by computer vision

Alexandra E. DiGiacomo, Samantha Andrzejaczek, Barbara A. Block

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