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Clinical genetics

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

The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students

Jasmijn E. Klapwijk, Vyne Van der Schoot, [ ... ], Sam R. Riedijk

Collection of autologous CD34+ hematopoietic progenitor cells (HPC) in multiple myeloma: CD34 + cell collection yield in relation to molecular subtype, karyotype, and FISH results

Anwar Rjoop, Ivette Perez, [ ... ], Gina Drobena

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand

Worrawit Wanitsuwan, Kanet Kanjanapradit, [ ... ], Sukanya Horpaopan

Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data

Leo Joskowicz, Tim Buchbinder, [ ... ], Jaime Levy

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