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Autosomal recessive 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

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

Kenneth Finlayson, Gill Moncrieff, Cath Harris, Soo Downe

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

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

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

Determinants of clinical severity in children with sickle cell disease and confirmed asthma

Gabriel Bafunyembaka, Mathieu Nacher, [ ... ], Narcisse Elenga

Common hemoglobin variants affecting the diagnosis of β-thalassemia: A large cohort data at a single center

Kritsada Singha, Hataichanok Srivorakun, [ ... ], Supan Fucharoen

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