Results 1 to 10 of about 3,528 (86)

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation. [PDF]

J Pathol
Abstract Splicing dysregulation is a relevant mechanism of pathogenicity for variants in disease susceptibility genes. Variants affecting the critical intronic +1 and +2 GT nucleotides of the 5’ splice sites (5'ss) are generally strong indicators of pathogenicity.
Llinares-Burguet I, Sanoguera-Miralles L, Bueno-Martínez E, García-Álvarez A, Valenzuela-Palomo A, Pérez-Segura P, de la Hoya M, Velasco-Sampedro EA.   +7 more
europepmc   +2 more sources

Erratum: Characteristics of participants in the national research mentoring network studies - CORRIGENDUM. [PDF]

J Clin Transl Sci
Hyun SH, Dums E, Sancheznieto F, Spencer K, Hau JM, Rogers JG, Pfund C.   +6 more
europepmc   +1 more source

Measuring AI literacy in medical students: scale development and validation within a self-determination theory framework. [PDF]

Med Educ Online
Lin HC, Lin CS, Chai CS, Lin C, Tsai PJ, Liang JC.   +5 more
europepmc   +1 more source

Endoscopic ultrasound-guided portal pressure gradient assessment of acute hemodynamic response to intravenous propranolol. [PDF]

Endoscopy
Romero-Castro R, Silva-Albarellos E, Grandes-Santamaria L, Carmona-Soria I, Jimenez-Garcia VA, Rodriguez-Tellez M, Caunedo-Álvarez Á.   +6 more
europepmc   +1 more source

Effect of moisture and pH on setting time and microhardness of three premixed calcium silicate-based root canal sealers: an in vitro experimental study. [PDF]

Restor Dent Endod
Kim S.
europepmc   +1 more source

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 <i>ATM</i> Splice-Site Variants. [PDF]

Int J Mol Sci
Llinares-Burguet I, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sanchez A, Romano-Medina D, Ramadane-Morchadi L, García-Álvarez A, Pérez-Segura P, Easton DF, Devilee P, Vreeswijk MPG, de la Hoya M, Velasco-Sampedro EA.   +12 more
europepmc   +1 more source

The person, not just the problem. [PDF]

Can Fam Physician
Pimlott N.
europepmc   +1 more source

Protocol for DESCIDE-RD: Determining Effectiveness of Shared Decision Making in Drug Therapy Selection for Rheumatic Diseases. [PDF]

J Korean Med Sci
Choi SR, Cho SK, Nam B, Park HR, Lee SB, Ko HR, Choi YJ, Nam E, Lee SW, Yoon S, Sung YK, and on behalf of DESCIDE-RD Investigators.   +11 more
europepmc   +1 more source

Synergistic Antimicrobial and Antibiofilm Activity of Nitroxoline in Combination with Hydroquinone Against Uropathogenic <i>Enterococcus faecalis</i>. [PDF]

Antibiotics (Basel)
Repac Antić D, Mežnarić S, Kolenc M, Brčić Karačonji I, Gobin I.   +4 more
europepmc   +1 more source

Mitochondria Derived From iPSCs Control by Reciprocal Regulation of Th17/Treg and Anti-Fibrosis. [PDF]

Immune Netw
Woo JS, Lee H, Jhun J, Yang S, Lee YS, Shin YJ, Lim SW, Lee BI, Yang CW, Chung BH, Cho ML.   +10 more
europepmc   +1 more source