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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, Rakib Bin Mahbub Talukder, Rynak Rahmat, Suzana Chowdhury Nitu, Arif Mahmud Howlader, Mohabbat Hossain, Mst. Sharmin Aktar Mukta, Mohammad Tanbir Habib, Abu Bakar Siddik, Nishat Sultana, Zannat Kawser, Umme Kulsum, Faisal Zainal Abedin, Nusrat Sultana, Md. Ahashan Habib, A. K. M. Ekramul Hossain, Farjana Akther Noor, Ahmad Zubair Mahdi, Muhammad Asaduzzaman, Emran Kabir Chowdhury, Md Rofiqur Rahman, Firdausi Qadri, Mst. Noorjahan Begum, A. H. M. Nurun Nabi

published 16 Jun 2026

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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, Sebastián Ayala-Zapata, Stephany Barbosa-Balaguera, Christian D. Messu-Llanos, Juan P. Rosales-Melo, Darío F. Andrade-Hoyos, Álvaro Herrera-Escandón, Oswaldo E. Aguilar-Molina

published 16 Jun 2026

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

Taichi Ochi, Manon G. den Uil, Greta Piazza, Geert W. J. Frederix, Eelko Hak, Vera H. M. Deneer, Talitha L. Feenstra

published 16 Jun 2026

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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, Margot Lemaitre, Dominique Salvi, Isabelle Marchetti-Waternaux, Elisabeth Cudry, Emmanuel Simon, Nicolas Bourgon, Alexandra Benachi, Nhut-Thanh Van, Camille Coppola, Christine Binquet, Christel Thauvin-Robinet, Frédéric Huet, Christine Peyron

published 15 Jun 2026

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

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

published 12 Jun 2026

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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, Brooke A. Brothers, Madyson E. Ashcraft, Tongju Guan, Artjola Puja, Yinxiao Xiang, Lee M. Shaw, Jianhai Du, Wen-Tao Deng

published 11 Jun 2026

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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, Foray Mohamed Foray, Sahr L. Gborie, Mohamed B. Jalloh

published 04 Jun 2026

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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, Meghan A. Cupp, Darlington David Faijue, Anne G.M. Schilder, Arturo Gonzalez-Izquierdo, Muhammad Qummer ul Arfeen, Andre Strydom, Dougal Hargreaves, Rachel Xue Ning Lee, Monica Lakhanpaul, Logan Manikam

published 03 Jun 2026

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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, Joseph Rujumba, Ruth Namazzi, Ivan Segawa, Kizza Lubega, Alphonse Taban, Edison Mworozi, Phillip Kasirye, Deogratias Munube, Grace Ndeezi, Sarah Kiguli, Thereza Piloya

published 29 May 2026

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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

published 22 May 2026

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

Soichiro Takamiya, Yasuhiro Morii, Toshiya Osanai, Kazuki Ohashi, Katsuhiko Ogasawara, Kiyohiro Houkin, Miki Fujimura

published 21 May 2026

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Views of the Swiss public towards gene editing

Kelly E. Ormond, Sara Kijewski, Naomi Wyler, Agata Ferretti, Eirini Petrou, Claudia Reichmuth, Effy Vayena

published 21 May 2026

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

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

published 20 May 2026

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