Results 91 to 100 of about 1,819 (215)

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

Eurocentric Beauty Standards: A Corpus-Assisted Discourse Analysis of Pakistani Skincare Blogs

Corporum
Fueled by digital information sources and advancements in dermatology, increasing public concern for beauty and skincare demands a critical examination of healthcare blog content.
Memona Mujahid, Salma Kalim
doaj  

Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer, Britt‐Marie Anderlid, Lena Jacobson, Daniel Martín Muñoz, Erik Björck   +4 more
wiley   +1 more source

A Corpus-Assisted Critical Discourse Analysis of the 2024 Pakistani Election Manifestos

Corporum
Manifestos are important for the public, as they convey the perspectives and unique preferences of politicians. The present study aims to investigate how Pakistani politicians use election manifestos as manipulative tools to control the public ...
Iqra Jabeen, Salma Kalim
doaj  

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

Previously undocumented regional variability in crab‐eating macaque skull sexual dimorphism and its implications for biological and morphometric studies

The Anatomical Record, EarlyView.
Abstract In a large sample of adult crab‐eating macaques, we quantified sexual dimorphism in size, shape, and covariance across the whole skull and among anatomical regions of the cranium and mandible. All regions showed significant mean sex differences, but the magnitude of size and shape dimorphism varied substantially.
Andrea Cardini, Paul O'Higgins
wiley   +1 more source

Morpho‐functional analyses of the jaw apparatus in the Blue‐and‐yellow Macaw (Ara ararauna, Psittaciformes, Aves): Adaptations to feeding behavior

The Anatomical Record, EarlyView.
Abstract Macaws are renowned for processing dry, mechanically resistant fruits, yet the species‐level anatomical and functional correlates of this performance remain incompletely resolved. We examined the feeding apparatus of the Blue‐and‐yellow Macaw (Ara ararauna) using an integrated approach that combines osteology, myology, and bite‐force estimates
Sérgio R. Posso, Ana Caroline M. Barbosa, Victor R. Caciatori   +2 more
wiley   +1 more source

Morphophysiological dynamics of the proximal post‐testicular ducts in Crotalus durissus Linnaeus, 1758 (Squamata: Viperidae)

The Anatomical Record, EarlyView.
Abstract The organization and function of reptilian excurrent ducts remain poorly characterized, particularly in Neotropical snakes. We provide the first integrative morphological, histochemical, immunohistochemical, and ultrastructural analysis of the proximal post‐testicular ducts of Crotalus durissus across reproductive stages.
Flávia Cappuccio de Resende, Gustavo Caldeira Cotta, Clara d' Ávila Fonseca Paiva de Paula Freitas, Leonardo Carvalho, Heloísa Helena Marques Oliveira, Victória Gomes Carvalho Silva, Lívia de Fátima Moreira Silva, Luciana Maria Silva, Samyra Maria dos Santos Nassif Lacerda, Guilherme Mattos Jardim Costa   +9 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

Production of 3D printed biomodels of the canine brain for veterinary neuroanatomy teaching

Anatomical Sciences Education, EarlyView.
Abstract Teaching neuroanatomy presents multiple challenges to both students and teachers, as it is a subject with highly dense content that commonly causes the development of aversion by students, a phenomenon referred to as “neurophobia,” which has been documented in human and veterinary medicine students.
João Victor Barbosa Tenório Fireman, Antônio Chaves de Assis Neto   +1 more
wiley   +1 more source