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Genetic diseases

Pain processing and pain assessment in Huntington’s disease: Study protocol of the Huntington’s disease - PAIN study

Gregory P. Sprenger, Monique van Velzen, [ ... ], Susanne T. de Bot

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

Verner N. Orish, Renosten E. Tetteh, [ ... ], Senyo Tagboto

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, [ ... ], Mohd Amir Ansari

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

Mohammad Alzoubi, Ahmad Omar Saleh, [ ... ], Alessandro Parente

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

Emily Limerick, Matthew Hsieh, [ ... ], Courtney D. Fitzhugh

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

Janipher Nakabuye, Wani Muzeyi, [ ... ], Deogratias Munube

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, [ ... ], Susanna Curtis

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

Shahriar Siddique Ayon, Abdullah Al Mamun, [ ... ], Ahmad Abadleh

Optimizing expanded carrier screening for China: Multi-center study establishes 202-gene panel with optimal cost-effectiveness in preconception and prenatal care

Yulu Yang, Yuting Hang, [ ... ], Jing Yuan

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas

Hua Li, Alexander Pemov, [ ... ], Margaret R. Wallace

Blood-brain barrier integrity and prevalence of intrathecal T helper 17.1 cells in Huntington´s disease

Birna Ásbjörnsdóttir, Christian Sandøe Musaeus, [ ... ], Jørgen Erik Nielsen

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

Joan A. Thomas, Garth Lipps

Exercise as a therapy for sickle cell-associated musculoskeletal pain among children: Healthcare professionals’ perspectives

Britney Pinamang Gyampo, Isaac Mensah Bonsu

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