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Clinical genetics

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

Gregory P. Sprenger, Monique van Velzen, Wilco P. Achterberg, Raymund A.C. Roos, Susanne T. de Bot

published 10 Apr 2026

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Clinical profile and hospital outcomes of children with Down syndrome diagnosed with congenital heart disease in a developing country: A retrospective study

Zawadi Edward Kalezi, Jimmy France Mchalange, Naizihijwa Gadi Majani, Alphonce Nsabi Simbila, Vivienne Aiyana Mlawi, Deogratias Arnold Nkya, Peter Richard Kisenge

published 06 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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A natural history study of Chinese individuals with Duchenne muscular dystrophy: Results from 2 years of follow-up and beyond

Xihua Li, Xinying Yang, Xingzhi Chang, Zhiqiang Wang, Siqi Hong, Wenhua Zhu, Qi Shen, Yangmei Zhou, Shuiqing Zhu, Ying Xu Gao, Caiping Jia

published 02 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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Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers

Maria Grazia De Iorio, Michele Polli, Sara Ghilardi, Stefano Frattini, Mara Bagardi, Alessandra Paganelli, Maria Cristina Cozzi, Kenza Seghrouchni, Paola Giuseppina Brambilla, Giulietta Minozzi

published 24 Mar 2026

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Hypoxia- and inflammation-driven preconditioning modulates angiogenic and metabolic pathways in canine adipose-derived mesenchymal stem cells

Pablo Ocampo-Ortiz, Viviana Vallejo-Aristizabal, Marcos Gomides Carvalho, Joshua Polanco Stuart, Thaisy Dellaqua, Fernanda da Cruz Landim e Alvarenga

published 23 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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Clinical application of fetal Nuchal Translucency combined with noninvasive prenatal testing in screening chromosome abnormalities

Guangzhen Fu, Shuang Hu

published 16 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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Comparison of neonatal systemic and intracerebroventricular AAV9 gene therapy delivery demonstrating improved behavioral and phenotypic outcomes in a mouse model of Niemann-Pick disease, type C1

Benjamin E. Epstein, Gabrielle M. Soden, Arturo A. Incao, Avani Mylvara, Jonathan Flynn, Fatih Ozsolak, William J. Pavan

published 11 Mar 2026

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Stem cell therapy for female stress urinary incontinence: Results, limitations and lessons learned from a pilot clinical study

Rodrigo C. Souza, Maria A. T. Bortolini, Yasmin Melino, Juliana A. P. de Godoy, Kelen Alvarez, Denise De Oliveira, Andrea T. Kondo, Jose M. Kutner, Mariane Secco, Eder Zucconi, Natássia Vieira, Sérgio Podgaec, Rebecca S. P. Silva, Rodrigo A. Castro

published 27 Feb 2026

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