Results 111 to 120 of about 133,531 (154)

[Dilated cardiomyopathy and conduction disorder due to <i>TNNI3K</i> mutation]. [PDF]

Arch Cardiol Mex
Gayán-Ordás J, Valverde-Gómez M, Bascompte-Claret R, Sánchez-Flores M, López-Ortega R, Pablo-Ochoa J.   +5 more
europepmc   +1 more source

[Validation of a new strategy for the identification of SARS-CoV-2 variants by sequencing the spike gene by Sanger]. [PDF]

Enferm Infecc Microbiol Clin, 2023
Murillo E, Palacio-Rua K, Afanador-Ayala C, García-Correa JF, Zuluaga AF.   +4 more
europepmc   +1 more source

Perfiles clínicos, bioquímicos y moleculares de tres neonatos de Sri Lanka con déficit de piruvato carboxilasa. [PDF]

Adv Lab Med
Jasinge E, Fernando M, Indika NR, Ratnayake PD, Gamaathige N, Ratnaranjith R, Schroeder S, Jones P, Volha S, Jayasena S, Gunaratna AV, Ekanayake ANB, Rolfs A.   +12 more
europepmc   +1 more source

[Autosomal recessive limb-girdle muscular dystrophy-10. Case report]. [PDF]

Rev Med Inst Mex Seguro Soc
Pérez-Arzola AA, Juárez-Melchor D, Crisanto-López IE, Vera-Loaiza A, Hernández-Castañeda Y, Guzmán-Santiago TA, Jiménez-Pérez B, Rodríguez-Hurtado PO, Salazar-Bonilla W.   +8 more
europepmc   +1 more source

[Autoimmune Regulatory Gene (AIRE) and Development of Autoimmune Thyroiditis in Down Syndrome]. [PDF]

Rev Med Inst Mex Seguro Soc
Moran-Espinosa MC, Granados-Riverón JT, Benítez-Arvizu G, Sosa-Delgado SM, Gómez-Mejía MA, Diaz-Garcia H.   +5 more
europepmc   +1 more source

Can PM20D1 be a New Kid on the Block in Cardiovascular Risk Stratification? Do Not Run before You Can Walk. [PDF]

Arq Bras Cardiol, 2022
Timóteo AT.
europepmc   +1 more source

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

What Is the Role of Kidney Injury Biomarkers in Contrast-Induced Nephropaty? [PDF]

Arq Bras Cardiol, 2021
Spineti PPM.
europepmc   +1 more source

[Epilepsy and inborn errors of metabolism]. [PDF]

Rev Neurol
Moya-López S, Ruiz-Colodrero A, Sainz-García J, Fariña-Jara V, García-Jiménez MC, Castejón-Ponce E, López-Pisón J, Pérez-Delgado R.   +7 more
europepmc   +1 more source

Should clinical laboratories adapt to the reality of chronic kidney disease in the determination of parathyroid hormone? [PDF]

Adv Lab Med, 2021
González-Casaus ML, Fernández-Calle P, Buño Soto A.   +2 more
europepmc   +1 more source