Results 111 to 120 of about 151,568 (281)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
wiley +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley +1 more source
Measurment of Web Usability: Web Page of Hacettepe University Department of Information Management
Türk Kütüphaneciliği, 2009 Today, information is produced increasingly in electronic form and retrieval of information is provided via web pages. As a result of the rise of the number of web pages, many of them seem to comprise similar contents but different designs.
Nazan Özenç Uçak, Tolga Çakmak
doaj
No Pedagogical Advantage Found Between LibGuides and Other Web Page Information Literacy Tutorials
, 2015 Kimberly Miller
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales +13 more
wiley +1 more source
Toward automated assessment of health Web page quality using the DISCERN instrument. [PDF]
J Am Med Inform Assoc, 2017 Allam A, Schulz PJ, Krauthammer M.
europepmc +1 more source
Annals of Neurology, EarlyView.Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang +7 more
wiley +1 more source
Information Research: An International Electronic Journal, 2006 Background User scripting heralds a paradigm shift towards web reader empowerment. Powerful web writers of the first decade of the Web needed to be cautioned about usability and accessibility issues. As power shifts to web readers, they become capable of
Terrence A. Brooks
doaj
An ant colony optimization based feature selection for web page classification. [PDF]
ScientificWorldJournal, 2014 Saraç E, Özel SA.
europepmc +1 more source