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Genetic diseases

Gene-transcription factor regulatory networks implicate primary cilia in the evolution of vertebrate sex determination and expand models of epigenetic regulation

Thea B. Gessler, Dean C. Adams, Nicole Valenzuela

A standardized imaging and analysis workflow for quantitative evaluation of cutaneous neurofibromas in Nf1-KO mice

Laura Fertitta, Fanny Coulpier, [ ... ], Piotr Topilko

Sickle cell disease and maternity care: A qualitative synthesis of women’s and health providers experiences

Kenneth Finlayson, Gill Moncrieff, Cath Harris, Soo Downe

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

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