Results 121 to 130 of about 93,262 (295)

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Medwave’s editorial history, policies and guidelines: 2. Editorial policies

Medwave, 2017
This article is the second of a series of four editorials that report on Medwave’s policies, including section policies, formal requisites according to article type, and guidelines for reviewers and authors, with special emphasis on publication and research ethics.
openaire   +3 more sources

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Editorial: Climate change mitigation and adaptation in power and energy systems [PDF]

\ua9 2024. This editorial summarizes the papers selected for publication in the Special Issue on Climate Change Mitigation and Adaptation in Power and Energy Systems (CMAP). After a rigorous review of 86 submitted manuscripts, 23 papers were accepted for
Arabnya A, Khodaei A, Huang Z, Terzija V, Wu C, Fotuhi-Firuzabad M, Borges CLT, Longe OM, Wogrin S   +8 more
core  

Aprendizaje personalizado y currículum inclusivo [PDF]

The work addressed personalized learning and inclusive curricula as fundamental pillars for ensuring equitable, contextualized, and individual student-centered education within the context of Ecuadorian basic education.
Pico Zambrano, Betty Susana; Escuela de Educación Básica \u27\u2721 de Mayo\u27\u27. Provincia de Manabí, Portoviejo, Ecuador, Pita Lucas, Marcela Verónica; Escuela de Educación Básica Rosa Borja de Icaza. Provincia de Manabí, Bolívar-Parroquia Quiroga, Ecuador, Sánchez Mora, Barbara Jacqueline; Unidad Educativa Capitán Alfonso Arroyo Aguirre. Provincia de Pichincha, Quito, Ecuador, Zambrano Sánchez, Francisca Cecibel; cuela de Educación General Básica Gabriela Mistral. Provincia de Manabí, Bolívar-Parroquia Quiroga, Ecuador, Arteaga Zambrano, Sandra Elizabeth; Escuela de Educación Básica Alejandro Humboldt. Provincia de Manabí, Bolívar, parroquia Quiroga, Sitio Bejuco, La Esmeralda, Ecuador, Monroy Flores, Betty Silvia; Escuela de Educación Básica ´´Naciones Unidas´´ Provincia de Manabí, Portoviejo, Ecuador, Franco Mero, Ramón Vicente; Unidad Educativa Juan León Mera. Provincia de Manabí, Montecristi, Parroquia Colorado, Ecuador, Zamora Cedeño, Rosaura Yadira; Unidad Educativa 13 de Octubre. Provincia de Manabí, Bolívar, Avenida Estudiantil KM 1/2 Vía Tosagua, Ecuador, Mera Torres, Santa Aracely; Escuela de Educación Básica Héroes de Tiwintza. Provincia de Manabí, Bolívar, Parroquia Quiroga - Sitio Miramar de Severino, Ecuador, Pico García, Mariela Alejandrina; Escuela de Educación Básica 27 de Octubre. Provincia de Manabí, Portoviejo – Parroquia San Placido Km 101 El Progreso, Ecuador   +9 more
core   +2 more sources

Suggestions for Exercise Science's Promotion to a Top-Tier Journal in the Category of Sports Science [PDF]

운동과학, 2022
Sun Huh
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Integración numérica con aprendizaje basado en problemas: teoría, ejercicios y aplicaciones en ingeniería [PDF]

The book Numerical Integration with Problem-Based Learning proposes an innovative and meaningful approach to classical numerical integration methods within the engineering context. Through a balanced combination of theory, practice, and contextualization,
Coronel Casadiego, José Javier; Universidad Popular del Cesar, Cesar, Colombia, Calderón Acosta, Juan Guillermo; Universidad Popular del Cesar, Cesar, Colombia, Badillo Durán, Lizeth; Universidad Popular del Cesar, Seccional Aguachica, Cesar, Colombia, Coronel Casadiego, José Javier; Universidad Popular del Cesar, Seccional Aguachica, Cesar, Colombia, Calderón Acosta, Juan Guillermo; Universidad Popular del Cesar, Seccional Aguachica, Cesar, Colombia, Tamayo Benjumea, Carlos Andrés; Universidad Popular del Cesar, Cesar, Colombia, Badillo Durán, Lizeth; Universidad Popular del Cesar, Cesar, Colombia, Tamayo Benjumea, Carlos Andrés; Universidad Popular del Cesar, Seccional Aguachica, Cesar, Colombia   +7 more
core   +2 more sources

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source