Results 101 to 110 of about 18,136 (218)

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Craniofacial growth, modeling, and estimation of milestones

The Anatomical Record, EarlyView.
Abstract Understanding craniofacial growth is foundational for research into intra‐ and interspecies variation, evolution, and clinical care. The Craniofacial Growth Consortium Study (CGCS), combines cephalographs from historical growth studies to create a dense longitudinal record of growth from 6 to 22 years of age.
Richard J. Sherwood, Dana L. Duren, Christina L. Holzhauser, Hee Soo Oh, Manish Valiathan, Kieran P. McNulty, Kevin M. Middleton   +6 more
wiley   +1 more source

Engineering Biology Beyond Single Genes: Advances and Challenges in Multiplex Genome Editing

Animal Research and One Health, EarlyView.
Multiplex genome editing is transforming genome engineering from single‐gene perturbation to network‐level control, yet its broader application remains limited by challenges in gRNA array engineering, delivery technologies, and safety management. Emerging AI‐driven approaches are accelerating guide RNA design and CRISPR effector optimization for ...
Linli Wang, Yongbin Liu, Hongbing Han
wiley   +1 more source

“Hands‐On” white matter anatomy: Using Air Anatomy gestures and tractography on simple brain sections to enhance teaching of white matter directions

Anatomical Sciences Education, EarlyView.
Abstract Teaching white matter (WM) anatomy to undergraduates is challenging. This is partly because WM fibers are oriented intricately and Klingler's dissection, the gold standard method used to demonstrate it, often requires time, advanced anatomical knowledge, and refined dissection skills.
Doris George Yohannan, Rohini Punja, Thomas Iype, Chandrasekharan Kesavadas, Bejoy Thomas, Kannanvilakom Govindapillai Umesan, Aswathy Maria Oommen, Usha Devi Keezhathil Bhargavi   +7 more
wiley   +1 more source

The ParlLawSpeech Parliamentary Text Data Collection > 3 Million Parliamentary Bills, Laws, and Speeches from 8 Legislatures. [PDF]

Sci Data
Schwalbach J, Hetzer L, Proksch SO, Rauh C, Sebők M.   +4 more
europepmc   +1 more source

Show Me the Brain!!: A modern approach to neuroanatomy education

Anatomical Sciences Education, EarlyView.
Abstract Show Me the Brain!! (SMtB) is a digital system for interactive graphics that is designed to support instruction in neuroanatomy and neuroscience. It will soon be made open‐source and freely available. SMtB bridges medical and traditional neuroanatomy instruction with the computational systems and representational conventions common in ...
Nicholas C. Hindy, Anthony J. Bishara, Ellie Lovellette, John R. Pani   +3 more
wiley   +1 more source

Mapping traditional Chinese medicine-related complementary interventions for cerebral palsy rehabilitation: a bibliometric and visualization analysis. [PDF]

Front Neurol
Zhou Z, Wang T, Li X, Deng B, Zhang H, Jiang Y, Xue Y, Xu L, Mu X, Li J.   +9 more
europepmc   +1 more source

Ritualized reflection in human dissection: Liminality, ethical negotiation, and professional identity formation among South Korean medical students

Anatomical Sciences Education, EarlyView.
Abstract Human dissection is a foundational component of medical education, yet it places students in profound ethical tension between scientific objectification and respect for human dignity. While prior studies have documented students' emotional responses, the structural transformation of their moral narratives over time, particularly within non ...
Jun‐Ki Lee, Hyoungtae Kim, Hyo Hyun Yoo   +2 more
wiley   +1 more source