Results 201 to 210 of about 1,423,105 (342)

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini   +8 more
wiley   +1 more source

2D/2D MOF/MXene Schottky Junction: Prolonged Carrier Lifetime and Enhanced Hydrogen Evolution Efficiency

open access: yesAngewandte Chemie, EarlyView.
This study designs an innovative 2D/2D Schottky heterojunction by integrating a 2D MOF with exfoliated Ti3C2 MXene. The MXene serves as a hole‐accumulation center, effectively enhancing charge carrier separation, prolonging carrier lifetimes, and achieving an impressive hydrogen evolution rate of 5000 µmol gcat−1 under visible‐light irradiation ...
María Cabrero‐Antonino   +11 more
wiley   +2 more sources

Correction: Senataxin prevents replicative stress induced by the Myc oncogene. [PDF]

open access: yesCell Death Dis
Sberna S   +13 more
europepmc   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis   +8 more
wiley   +1 more source

Microhydration Dynamics in Molecular Photoswitches: Equilibrium State Reconfiguration in Imine‐Based Architectures

open access: yesAngewandte Chemie, EarlyView.
The performance of molecular photoswitches relies on their structural adaptability in solution. Employing gas‐phase rotational spectroscopy and quantum chemistry, we explore the microhydration of camphorquinone imine and show that water binding shifts the E/Z equilibrium, even reversing relative stabilities, while enabling dynamic motion at low ...
Nuno M. Campos   +8 more
wiley   +2 more sources

Effects of attentional focus on the regulation of torque complexity. [PDF]

open access: yesPLoS One
Bauer P   +5 more
europepmc   +1 more source

La Tecnología al servicio de los contenidos disciplinares : Estudio de un caso [PDF]

open access: yes, 2012
El presente trabajo forma parte de la propuesta educativa presentada en el marco de la Especialización en Educación y TIC del Ministerio de Educación de la Nación, como trabajo final correspondiente al módulo Modelo 1 a 1. Dicho trabajo consta de dos instancias: la descripción de una clase tradicional y una propuesta que da cuenta de la manera en que ...
openaire   +1 more source

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