Results 21 to 30 of about 61,741 (254)

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Genomic selection signatures in sheep from the Western Pyrenees

Genetics Selection Evolution, 2018
Background The current large spectrum of sheep phenotypic diversity results from the combined product of sheep selection for different production traits such as wool, milk and meat, and its natural adaptation to new environments.
Otsanda Ruiz-Larrañaga, Jorge Langa, Fernando Rendo, Carmen Manzano, Mikel Iriondo, Andone Estonba   +5 more
doaj   +1 more source

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Long-Term Monitoring Reveals Fish Assemblage Responses to Eutrophication and Highlights Critical Habitats for Conservation in the Mar Menor Coastal Lagoon (SE Spain)

Proceedings
Introduction: Long-term ecological monitoring is essential to understand the responses of fish communities to global change in transitional ecosystems. Coastal lagoons are particularly vulnerable to eutrophication, which can trigger abrupt regime shifts,
Francisco José Oliva-Paterna, Antonio Zamora-López, Adrián Guerrero-Gómez, Víctor Manuel Alvaréz-Navarro, Antonio Andrés Herrero-Reyes, Elena Parra-Espín, José Manuel Zamora-Marín, Mar Torralva   +7 more
doaj   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Population Stability of the Endangered Iberian Killifish in Coastal Salt Pans (SE Spain): Hydrological Management as the Main Drive

Proceedings
Introduction: The Iberian killifish (Apricaphanius iberus), an endemic cyprinodontid of the Spanish Mediterranean coast, is a key conservation species due to its restricted distribution, high sensitivity to habitat alteration and invasive fish, and ...
Víctor Manuel Álvarez-Navarro, Adrián Guerrero-Gómez, Antonio Zamora-López, Antonio Andrés Herrero-Reyes, Elena Parra-Espín, Mar Torralva, José Manuel Zamora-Marín, José Manuel Vidal-Gil, Francisco José Oliva-Paterna   +8 more
doaj   +1 more source

A Content Analysis of Papers Published by the Lecturers of the Faculty of Sport and Physical Education for the Last Three Years in Journal of Anthropology of Sport and Physical Education [PDF]

Journal of Anthropology of Sport and Physical Education, 2019
Journal of Anthropology of Sport and Physical Education (JASPE) is a scientifi c journal that exists for three years and has so far released 107 scientifi c papers in 7 editions.
Dragan Bacovic
doaj   +1 more source

Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This was a single‐center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography.
Alicia Mom, Véronique Bourg, Shenhao Dai, Alicia‐Marine Milot, Dominic Perennou, Klaus Dieterich   +5 more
wiley   +1 more source

Human evolution in the South African school curriculum

South African Journal of Science, 2019
A decade after the introduction of the topic into the South African public school curriculum, the theory of evolution by natural selection is poorly understood among those who teach it, and that flawed understanding is transferred to those attempting to ...
Clarisa Sutherland, Ericka N. L'Abbé
doaj   +1 more source

Relationships between Body Build and Knee Joint Flexor and Extensor Torque of Polish First-Division Soccer Players

Applied Sciences, 2020
The aim of the study is to identify the relationships between anthropometric variables and knee joint extensor peak torque, knee joint flexor peak torque, and conventional hamstring-to-quadriceps ratio in Polish first-division soccer players.
Jadwiga Pietraszewska, Artur Struzik, Anna Burdukiewicz, Aleksandra Stachoń, Bogdan Pietraszewski   +4 more
doaj   +1 more source