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Genetic diseases

Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia

Ya-nan Hu, Min Wu, [ ... ], Jie-Wei Luo

Impact of sinus surgery in people with cystic fibrosis and chronic rhinosinusitis in the era of highly effective modulator therapy: Protocol for a prospective observational study

Christine M. Liu, Jakob L. Fischer, [ ... ], Daniel M. Beswick

In vitro atomization analysis and evaluation of inhalable sodium sivelestat formulations

Rangdong Liu, Aifang He, [ ... ], Hui Cao

A systematic evaluation of the performance and properties of the UK Biobank Polygenic Risk Score (PRS) Release

Deborah J. Thompson, Daniel Wells, [ ... ], Michael E. Weale

Research inefficiencies in external validation studies of the Framingham Wilson coronary heart disease risk rule: A systematic review

Jong-Wook Ban, Lucy Abel, Richard Stevens, Rafael Perera

Mutational spectrum of breast cancer by shallow whole-genome sequencing of cfDNA and tumor gene panel analysis

Fernando Ambriz-Barrera, Ernesto Rojas-Jiménez, [ ... ], Sandra Perdomo

Severe acute malnutrition among children under the age of 5 years

Gift C. Chama, Lukundo Siame, [ ... ], Sepiso K. Masenga

Germline multigene panel testing in acute and chronic pancreatitis

Mitchell L. Ramsey, Brandie Heald, [ ... ], Peter P. Stanich

Evaluation of a point-of-care rapid diagnostic test kit (SICKLECHECK) for screening of sickle cell diseases

Prasanta Purohit, Chinmayee Parida, [ ... ], Samira Kumar Behera

Resistance of Pseudomonas aeruginosa and Staphylococcus aureus to the airway epithelium oxidative response assessed by a cell-free in vitro assay

Maïwenn Petithomme-Nanrocki, Nathan Nicolau-Guillaumet, [ ... ], Thomas Guillard

Effect of bitter orange blossom distillate on anxiety and sleep disorder in mothers with infants admitted to neonatal intensive care unit: A Randomized controlled clinical trial

Zahra Dehghan, Seyedeh Roghaye Jafarian Amiri, [ ... ], Afsaneh Arzani

Electrical stimulation of Schwann cells on electrospun hyaluronic acid carbon nanotube fibers

Judy Senanayake, Raymond R. Mattingly, Harini G. Sundararaghavan

METTL16 participates in haemoglobin H disease through m⁶A modification

Yuping Liao, Feng Zhang, [ ... ], Lihong Pang

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