Results 181 to 190 of about 1,043,346 (376)
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.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 +26 more
wiley +1 more source
Loose LIPS Sink Ships: Asking Questions in Battleship with Language-Informed Program Sampling [PDF]
Gabriel Grand +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.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 +3 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 +13 more
wiley +1 more source
Population dynamics and exploitation level of green-lipped mussel (Perna viridis) using FiSAT from the offshore island of the Cox's Bazar Coast of Bangladesh [PDF]
, 2005 Mohammad Nurul Amin Sarker +4 more
openalex
Animal Models and Experimental Medicine, EarlyView.Animal models remain indispensable in the study of pathological scars, each offering unique advantages and constraints. Their integration with in vitro and ex vivo systems is key to developing personalized, clinically translatable antifibrotic therapies. Abstract Pathological scarring, manifested in the form of hypertrophic scars (HTS) and keloid scars
Diana‐Larisa Ancuța +3 more
wiley +1 more source
Dynamics of the priority map in LIP during visual search
, 2010 Koorosh Mirpour +2 more
openalex +1 more source
Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures
Annals of Neurology, EarlyView.Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick +9 more
wiley +1 more source