Results 81 to 90 of about 94,303 (243)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +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

Editorial note

Zagadnienia Filozoficzne w Nauce, 2022
This special edition of Philosophical Problems in Science (Zagadnienia Filozoficzne w Nauce or ZFN) focuses on concepts of information and computing. On reading this issue, you may be surprised by the absence of traditional perspectives and themes that ...
Roman Krzanowski
doaj  

With this Special Edition

Revista Scientific, 2017
Con esta Edición Especial, la Revista arbitrada Scientific, editada en el mes de Febrero del 2017, se presenta una temática nutrida y multidisciplinaria, desde la relación de la Educación Ambiental, en ese compartir ecológico hombre-ambiente; la responsabilidad social desde el entorno de la Gerencia y los valores motivacionales conducentes al desempeño
openaire   +1 more source

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake   +2 more
wiley   +1 more source

Early Versus Late Recurrence in Olfactory Neuroblastoma: A Multi‐Institutional Analysis of Predictive Risk Factors

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory neuroblastoma (ONB) exhibits variable recurrence patterns, with significant late recurrences occurring years after treatment. We investigated cutoff periods to define late recurrence and identified predictors that distinguish patients at risk of late recurrence from those considered cured.
Alexandria Harris, Anthony Tang, Nicholas Fung, Joao Paulo Almeida, Pierre‐Olivier Champagne, Juan Fernandez‐Miranda, Paul A. Gardner, Peter Hwang, Aristotelis Kalyvas, Chirag Patel, Zara M. Patel, Maria Peris Celda, Carlos D. Pinheiro‐Neto, Olabisi Sanusi, Carl H. Snyderman, Brian D. Thorp, Jamie J. Van Gompel, Georgios Zenonos, Nathan T. Zwagerman, Diana Bell, Edward C. Kuan, Eric W. Wang, Mathew Geltzeiler, Garret Choby   +23 more
wiley   +1 more source

Women’s Special Issue Series: Biomedicines (2nd Edition)

Biomedicines
The second edition of the “Women’s Special Issue Series: Biomedicines” brings together a series of articles that reflect both the scientific excellence of women researchers and the growing complexity of contemporary biomedical research [...]
Federica Falà, Riuko Ohashi, Letizia Polito   +2 more
doaj   +1 more source

Blood Biomarkers of Alzheimer's Disease and Patterns of Structural Brain Changes in the Community

Annals of Neurology, EarlyView.
Objective We aimed to investigate the associations between Alzheimer's disease (AD)‐related blood biomarkers and changes in brain volumes and cerebrovascular burden in community‐dwelling older adults. Methods We included 361 dementia‐free participants with a Mini‐Mental State Examination (MMSE) score ≥ 27 and without prior cerebrovascular events from a
Martina Valletta, Davide Liborio Vetrano, Erika J. Laukka, Grégoria Kalpouzos, Javier Oltra, Debora Rizzuto, Marco Canevelli, Claudia Fredolini, Chengxuan Qiu, Bengt Winblad, Laura Fratiglioni, Giulia Grande   +11 more
wiley   +1 more source

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

BJS (British Journal of Surgery), EarlyView., 2020
Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.
T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP)   +18 more
wiley   +1 more source

Introduction to the Special Edition on Burnout in Medicine. [PDF]

Perm J, 2023
Tran HN.
europepmc   +1 more source