Results 41 to 50 of about 1,043 (244)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Amiens Cathedral, choir screen detail, learning
, 2014 Choir screen detail, 15th century, learning, Amiens Cathedral (Cathedrale Notre-Dame d\u27Amiens), .https://digital.kenyon.edu/peregphotos/2779/thumbnail ...
Smither, William J.
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Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Aachen Cathedral, Organ and Gothic choir screen, nave
, 2014 Organ and Gothic choir screen, nave, Aachen Cathedral, Aachen, Germany.https://digital.kenyon.edu/peregphotos/2979/thumbnail ...
Mittman, Asa
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, 2023 Bishop Vargas Carvajal commissioned a choir screen for the Plasencia New Cathedral choir in the middle of the 16th century, once the temple works had advanced to the point of closing the vaults of the first section of the naves.
Ramos Berrocoso, Juan Manuel +1 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 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
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Introduction Temperature‐controlled radiofrequency (TCRF), septoplasty (ST) with turbinate reduction, and functional rhinoplasty (FR) are treatment options for nasal airway obstruction (NAO) and nasal valve dysfunction (NVD), but no direct comparison of these procedures has been performed. Methods This prospective, open‐label, non‐inferiority (
Greg Davis +13 more
wiley +1 more source
, 2016 Once a ubiquitous feature of the medieval church interior, choir screens formed an integral role in the spatial division of medieval churches. Following their widespread destruction after the Counter-Reformation in the 16th century, little trace has been
Giles, Lucas
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Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source