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Genetic diseases

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, [ ... ], Dilnora B. Yusupalieva

Barriers and facilitators to healthcare utilization amongst people living with sickle cell disease in the United States: A scoping review

Christina Ruan, Joyce Gyamfi, [ ... ], Emmanuel Peprah

Development and validation of a machine learning model to detect psychiatric symptoms in Huntington’s disease using speech analysis

Quang Tuan Rémy Nguyen, Hadrien Titeux, [ ... ], Anne-Catherine Bachoud-Lévi

Childhood to Adult Neurodevelopment in Gene-Expanded Huntington’s Disease (ChANGE-HD): A prospective longitudinal neurodevelopmental study of Huntington’s disease

Mohit Neema, Nabil Halabi, [ ... ], the ChANGE-HD investigators, coordinators, and consultants

Predicting elevated transcranial doppler velocity among patients with sickle cell anemia in Uganda: A cross-sectional study

Doreen Nayiga, David Mukunya, [ ... ], Peter Olupot Olupot

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

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

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

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

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

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

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

Impact of the COVID-19 pandemic on sex-related disparities in cystic fibrosis healthcare utilization and outcomes: A population study

Jason Weatherald, Chuan Wen, [ ... ], Grace Y. Lam

Persistent proteinuria among a cohort of Nigerian children with sickle cell anaemia

Angela Esohe Adeoti-Lawani, Gabriel Obiorah Ezeh, Elizabeth Eberechi Oyenusi, Chris Imokhuede Esezobor

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