Results 1 to 10 of about 297,817 (217)

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome. [PDF]

Ann Clin Transl Neurol, 2023
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in SLC2A1 was quantitatively determined in HAP1 cells in which SLC2A1 is required for growth.
Tayebi N, Leon-Ricardo B, McCall K, Mehinovic E, Engelstad K, Huynh V, Turner TN, Weisenberg J, Thio LL, Hruz P, Williams RSB, De Vivo DC, Petit V, Haller G, Gurnett CA.   +14 more
europepmc   +2 more sources

[About heroes, enemies, victims and battles in the COVID-19 era]. [PDF]

Rev Med Chil, 2020
Rojas D, Micolich C, Dittborn M, Salas SP.   +3 more
europepmc   +1 more source

The goose of the golden eggs and the anatomy of a crisis: inflation, avian influenza, and the pandemic specter. [PDF]

Cad Saude Publica
Elias IV.
europepmc   +1 more source

Mi c-a-s-a. Una metáfora atravesada por la noción de hogar

, 2023
Deisy Beltrán
openalex   +2 more sources

Addressing Gender Disparities in Cardiovascular Care: Guideline-Oriented PCI for Women and the Hua-Mulan Conundrum. [PDF]

Arq Bras Cardiol
Silva PG, Ribeiro HB.
europepmc   +1 more source

HIV-1 Elite Controllers Are Characterized by Elevated Levels of CD69-Expressing Natural Killer Cells. [PDF]

J Acquir Immune Defic Syndr
Batohi N, Shalekoff S, Martinson NA, Ebrahim O, Tiemessen CT, Thobakgale CF.   +5 more
europepmc   +1 more source

Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function. [PDF]

J Clin Med, 2023
Dunaway Young S, Montes J, Glanzman AM, Gee R, Day JW, Finkel RS, Darras BT, De Vivo DC, Gambino G, Foster R, Wong J, Garafalo S, Berger Z, SHINE Study Group.   +13 more
europepmc   +1 more source

Challenges of scientific communication: the role of Cadernos de Saúde Pública in its 40 years of history. [PDF]

Cad Saude Publica
Lima NT.
europepmc   +1 more source

Significado extendido de la metáfora: aproximación e interpretaciones en fragmentos discursivos sobre éxito y fracaso en adultos mayores de Colima, México

, 2018
Alan Emmanuel Pérez Barajas
openalex   +1 more source