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Genetic diseases

Sickle cell disease screening: Experiences of parents with positive newborns at Korle Bu TeachingHospital

Irene Kanyoke, Faustina Hayford Blankson, Diana Dwuma-Badu, Catherine Segbefia

Development of loop-mediated isothermal amplification (LAMP) combined with a lateral flow dipstick DNA biosensor for detection of α thalassemia 1 [Southeast Asia (SEA), ^--SEA deletion]

Jutturong Ckumdee, Sataron Karnjanaopas, [ ... ], Chanita Sanyear

The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts

Santosh Varughese, Mary Huang, Judy Savige

Training strategy over architecture: A systematic ablation study for Spartina detection from aerial imagery with small geospatial datasets

Adrien Le Guillou, Manon Brehier, [ ... ], Pierre Stéphan

Therapeutic potential of haptoglobin in a murine model of sickle cell anemia

Bianca Cristina dos Santos, Magnun Nueldo Nunes dos Santos, [ ... ], Marcus Alexandre Finzi Corat

The changing landscape of Fabry disease: Impact of the inclusion of the GLA-gene in broader NGS or WES based panels on the phenotypic spectrum

Laura van Dussen, Emilie V. Albers, [ ... ], Mirjam Langeveld

Prevalence and factors associated with anemia among patients with type 2 diabetes mellitus in northeastern Thailand: A cross-sectional study

Khomsan Yooyen, Seubsiri Bunditpirom, [ ... ], Supawadee Yamsri

Double burden of malnutrition among non-pregnant women of reproductive age: Results from the National Health Survey of Panama (ENSPA) 2019

Roger Montenegro Mendoza, Flavia Fontes, [ ... ], Ilais Moreno Velásquez

Experiences of family building counseling and perceptions of reproductive technology among adults with sickle cell disease

Rachel D. Gordon, Kayla Dyson, [ ... ], Robert M. Cronin

Strengthening the National Sickle Cell Elimination Mission through universal access to point-of-care screening test

Beena Joshi, Kavitha Rajsekar, [ ... ], Shankar Prinja

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

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

Kenneth Finlayson, Gill Moncrieff, Cath Harris, Soo Downe

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