Results 151 to 160 of about 92,775 (295)
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 +4 more
wiley +1 more source
Publicações científicas e as relações Norte-Sul: racismo editorial?
Revista de Saúde PúblicaO objetivo do estudo foi comentar a possível existência de preconceito editorial entre editores de revistas científicas de países do Norte contra autores do Sul.
Cesar G Victora, Carmen B Moreira
doaj
Are Null Results Becoming an Endangered Species in Marketing? [PDF]
ditorial procedures in the social and biomedical sciences are said to promote studies that falsely reject the null hypothesis. This problem may also exist in major marketing journals.
JS Armstrong, Raymond Hubbard
core
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 +6 more
wiley +1 more source
Cumhuriyet İlahiyat Dergisi Yayın İlkeleri
Cumhuriyet İlahiyat Dergisi, 2017 Cumhuriyet İlahiyat Dergisi, Cumhuriyet Üniversitesi İlahiyat Fakültesi (Sivas/Türkiye) tarafından yayımlanır.Cumhuriyet İlahiyat Dergisi, Dinî Araştırmalar alanında hazırlanan akademik çalışmaları yayımlar.Cumhuriyet İlahiyat Dergisi, yılda 2 sayı sayı (
Yayın Kurulu
doaj
Didácticas disruptivas: enseñar con creatividad e innovación
The work "DISRUPTIVE DIDACTICS: TEACHING WITH CREATIVITY AND INNOVATION" addressed, from a theoretical and practical perspective, the study of the fundamentals, strategies, and teaching tools relevant to the context of secondary education in Ecuador.
Tumbaco Figueroa, Gina Patricia; Universidad Estatal del Sur de Manabí. Jipijapa, Manabí, Ecuador +7 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
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 +13 more
wiley +1 more source
Letter to the Editor: Defining the Boundaries of AI Use in Scientific Writing: A Comparative Review of Editorial Policies. [PDF]
J Korean Med SciMatsubara S.
europepmc +1 more source