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Clinical genetics

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease

Aastha Vatsyayan, Mukesh Kumar, [ ... ], Binukumar B. K.

Clinical use of polygenic risk scores for detection of peripheral artery disease and cardiovascular events

Jesutofunmi A. Omiye, Ilies Ghanzouri, [ ... ], Elsie Gyang Ross

Burden and outcome of respiratory morbidities among children and adolescents with sickle cell disease—A retrospective review of emergency presentations in some Nigerian tertiary institutions

Rasheedat Mobolaji Ibraheem, Mohammed Baba Abdulkadir, [ ... ], Hassan Kamiludeen Shina

Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy

Linda P. Lowes, Lindsay N. Alfano, [ ... ], Jerry R. Mendell

The implementation and impact of non-invasive prenatal testing (NIPT) for Down’s syndrome into antenatal screening programmes: A systematic review and meta-analysis

Elinor Sebire, Chithramali Hasanthika Rodrigo, [ ... ], Rute Vieira

Functional classes of SNPs related to psychiatric disorders and behavioral traits contrast with those related to neurological disorders

Mark A. Reimers, Kenneth S. Kendler

Delivering biochemicals with precision using bioelectronic devices enhanced with feedback control

Giovanny Marquez, Harika Dechiraju, [ ... ], Marcella Gomez

Itaconic acid inhibits nontuberculous mycobacterial growth in pH dependent manner while 4-octyl-itaconic acid enhances THP-1 clearance of nontuberculous mycobacteria in vitro

Paul Breen, Madsen Zimbric, Lindsay J. Caverly

The associations between functional dyspepsia and potential risk factors: A comprehensive Mendelian randomization study

Zeyu Wang, Tangyi Liu, [ ... ], Yanglin Pan

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe

Anna Fernandez-Falgueras, Monica Coll, [ ... ], Ramon Brugada

Electric pulse exposure reduces AAV8 dosage required to transduce HepG2 cells

Yizhou Yao, Robert W. Holdcraft, Susan C. Hagness, John H. Booske

The role of Patient and public involvement (PPI) in pre-clinical spinal cord research: An interview study

Pádraig Carroll, Adrian Dervan, [ ... ], Michelle Flood

Decreased risk of underdosing with continuous infusion versus intermittent administration of cefotaxime in patients with sickle cell disease and acute chest syndrome

Keyvan Razazi, Enora Berti, [ ... ], Armand Mekontso Dessap

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