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Autosomal recessive diseases

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

Jason Weatherald, Chuan Wen, Heather Sharpe, Winnie M. Leung, Paul E. Ronksley, Jeffrey A. Bakal, Michael K. Stickland, Douglas P. Gross, Grace Y. Lam

published 06 May 2026

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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

published 30 Apr 2026

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

Gabriel Bafunyembaka, Mathieu Nacher, Ariel Makembi, Nadia Nathan, Narcisse Elenga

published 28 Apr 2026

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

Kritsada Singha, Hataichanok Srivorakun, Supawadee Yamsri, Attawut Chaibunruang, Anupong Pansuwan, Yossombat Changtrakul, Kanokwan Sanchisuriya, Goonnapa Fucharoen, Supan Fucharoen

published 17 Apr 2026

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Toxoplasma gondii seropositivity among patients with sickle cell disease: Prevalence and association with blood transfusion history

Verner N. Orish, Renosten E. Tetteh, David Adzah, Chinecherem A. Ndiokwelu, Emmanuel A. Allotey, Evans A. Yeboah, Sylvester Y. Lokpo, Kenneth Ablordey, Duneeh R. Vikpebah, Ekene K. Nwaefuna, Precious K. Kwadzokpui, Noble D. Dika, Elom Y. Dzefi, Kokou H. Amegan-Aho, Aninagyei Enoch, Senyo Tagboto

published 03 Apr 2026

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Effect of health educational intervention on early detection of sickle cell disease among adolescent population in tribal areas of East Singhbhum district, Jharkhand: A study protocol

Sarbasree Bhattacharjee, Jarina Begum, Ranjitha S. Shetty, Syed Irfan Ali, Ravi Ranjhan Jha, Anit Kujur, Mohd Amir Ansari

published 01 Apr 2026

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Asymptomatic gallstones: Cumulative incidence proportion, incidence rate, and risk factors for symptoms development: Systematic review and meta-analysis

Mohammad Alzoubi, Ahmad Omar Saleh, Farah Al Omari, Kinda Shatnawi, Batool Hyari, Ala’a Qashou, Khaled Daradka, Salam Daradkeh, Mohammad Abu Hilal, Alessandro Parente

published 26 Mar 2026

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Nonmyeloablative pentostatin-cyclophosphamide preconditioning improves rates of engraftment in adults undergoing haploidentical HCT for sickle cell disease

Emily Limerick, Matthew Hsieh, Jackie Queen, Mary Lacy Grecco, Julia Varga, Jennifer Brooks, Wynona Coles, Neal Jeffries, Courtney D. Fitzhugh

published 23 Mar 2026

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Low self-esteem in adolescents with sickle cell disease: Determinants and coping mechanisms; A mixed methods study

Janipher Nakabuye, Wani Muzeyi, Annet Nakirulu, Sarah Kiguli, Grace Ndeezi, Deogratias Munube

published 12 Mar 2026

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Investigating the effects of cannabinoids for the reduction of inflammation and sickle cell disease pain (CRISP); A protocol for a randomized double-blind placebo-controlled study

Jordan Bellis, Lydia Monk, Ritika Jhawar, Galia Pollock, Angela Liu, Charleen Jacobs-McFarlane, Brittany McCrary, Jeffrey Glassberg, Susanna Curtis

published 28 Jan 2026

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Explainable AI framework for improved Thalassemia mental health classification and feature selection

Shahriar Siddique Ayon, Abdullah Al Mamun, Md. Ebrahim Hossain, Wasan Alamro, Yazan M. Allawi, Nuzhat Noor Islam Prova, Md. Saef Ullah Miah, Salman Md Sultan, Ahmad Abadleh

published 23 Jan 2026

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A qualitative exploration of the experience of individual-level stigma among adolescents with a chronic illness

Joan A. Thomas, Garth Lipps

published 18 Dec 2025

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