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Clinical genetics

Pharmacogenomic landscape in Thailand: Array-based profiling and EMR-linked medication exposure

Phongthana Pasookhush, Sophida Suta, [ ... ], Korapat Mayurasakorn

Barriers and levers to using an app for motor function assessment by therapists in hospitals: A qualitative study of the MFM-Play app

Dominique Vincent-Genod, Manon Verroul, [ ... ], MFM-Play Study Group

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

Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis

Fabian A. Chavez-Ecos, Carlos Quispe-Vicuña, [ ... ], Carlos Alva-Diaz

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

A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score

Tone Hovda, Siim Sober, [ ... ], Kristine Kleivi Sahlberg

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

Awareness, attitudes, and barriers toward Transthyretin Amyloid Cardiomyopathy in Latin America: A questionnaire-based cross-sectional study

Cecilia Camacho-Hubner, Marcia Waddington-Cruz, [ ... ], Guilherme Silva Julian

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

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