Results 201 to 210 of about 90,963 (244)

Norm Circles and Critical Realism

Journal for the Theory of Social Behaviour, Volume 56, Issue 2, June 2026.
ABSTRACT An increasing number of scholars have employed the critical realist concept of norm circles in empirical research. Norm circles are social structures, composed of human agents, that tend to encourage people to conform with norms. As such, they provide a (partly) structural explanation for social normativity, which in turn plays an important ...
Dave Elder‐Vass, Manuel Heckel
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Novel variant causing OTUD6B-related syndrome with ocular dysplasia and hypothyroidism: the first Chinese case. [PDF]

BMC Pediatr
Chen J, Gao D, Hu J, Xu K, Gu W, Li J, Zhu H.   +6 more
europepmc   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

An infant of KID syndrome along with Dandy-Walker malformation (DWM). [PDF]

JAAD Case Rep
Mondal A.
europepmc   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1062-1068, May 2026.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Facial feature representations in visual working memory: A reverse correlation study. [PDF]

J Vis
Kuuramo C, Kurki I.
europepmc   +1 more source

Cooling down for going up: Could selective ‘brain chilling’ mitigate high‐altitude illness?

Experimental Physiology, EarlyView.
Adnan Haq, Damian M. Bailey
wiley   +1 more source

Deuterium 1‐Channel Transmit/16‐Channel High Impedance Receive Array Combined With 16‐Channel 1H Dual‐Row Transceiver Array for 7 Tesla Brain Imaging

Magnetic Resonance in Medicine, Volume 95, Issue 5, Page 3021-3030, May 2026.
ABSTRACT Purpose To develop and evaluate an 2H/1H coil configuration that enables deuterium metabolic imaging at 7 T while preserving high‐quality 1H anatomical imaging. Methods An 16‐channel 2H high‐impedance receive array was combined with a 2H transmit birdcage and a 16‐channel dual‐row 1H transceiver array.
Bei Zhang, Wenkai Liang, Chichen Dong, Anke Henning   +3 more
wiley   +1 more source

Phthiriasis palpebrarum in a 7-year-old girl: a case report. [PDF]

Front Med (Lausanne)
Cui T, Meng L.
europepmc   +1 more source