Results 191 to 200 of about 93,882 (259)

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Knowledge structure in nursing research on infection control: application of topic modeling. [PDF]

Front Public Health
Ryu D, Gu M, Baek H, Sok S.
europepmc   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Defining Activity-Based Subgroups in Multiple Sclerosis: A Review and Framework Proposal. [PDF]

Eur J Neurol
Lopez Manzano C, Rice CM, Tallantyre E, Cooper C, Cooper C, Wang H, Tomlinson E, Sadek A, Rao-Middleton A, Thom H, Whiting P.   +10 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

A machine learning and NLP pipeline for analyzing ESG and sustainability disclosures in the textile and apparel industry. [PDF]

Sci Rep
Magotra A, Rana MRI, Shishir FS, Shomaji S.   +3 more
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Reconsidering the terminology of "early" and "advanced" gastric cancer: toward a harmonized global lexicon. [PDF]

Gastric Cancer
Sano T, Boku N, Lordick F.
europepmc   +1 more source

National and International Monitoring of Student Literacy and Numeracy Attainment: The Case for Rigorous Macro and Micro Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT In her 2024 paper Are Australian students' academic skills declining? Interrogating 25 years of national and international standardised assessment data, Larsen compiled an impressive summary of major international (PISA, PIRLS and TIMSS) and national (NAPLAN) standardised assessments pertaining to literacy and numeracy.
Pamela C. Snow, Tanya A. Serry, Jennifer Buckingham, Lorraine S. Hammond, Stephen Dinham, Eamon Charles, Tessa A. Weadman, Nathanial R. Swain, Susan Hiland, Tessa Daffern   +9 more
wiley   +1 more source

Towards Establishing Shared Terminology for Person-Centred Care: A Modified Delphi Study With Consumers and Health Professionals. [PDF]

Health Expect
Barnden R, Collyer TA, Snowdon DA, Lannin NA, Srikanth V, Harvey S, Andrew NE.   +6 more
europepmc   +1 more source