Results 71 to 80 of about 302,208 (268)
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
Revista Cubana de Estomatología, 2012 La Literatura Universal, fuente de información y conocimiento, medio para enriquecer el acervo cognoscitivo y cultural de los profesionales de la estomatología; recoge en sus páginas las raíces de esta profesión, manifestada en la labor que realizaron ...
Bernardo Manuel Núñez Pérez +1 more
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PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Effect of toxic metals on oral tissues
Journal of Education, Health and Sport, 2017 Toxic metals that commonly occur in human environment may exert a negative influence on people’s health. This study presents the problem of pathological changes occurring within the oral cavity as a result of exposure to toxic metals.
Katarzyna Herman +7 more
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Deposition of growth layer groups in dentine tissue of captive common dolphins Delphinus delphis
NAMMCO Scientific Publications, 2014 Knowledge of age structure and longevity (maximum age) are essential for modelling marine mammal population dynamics. Estimation of age in common dolphins (Delphinus spp.) is primarily based on counting Growth Layer Groups (GLGs) in the dentine of thin ...
Sinéad Murphy +4 more
doaj +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour +5 more
wiley +1 more source
Bilateral fusion of permanent maxillary incisors
Indian Journal of Dental Research, 2011 Dental fusion is a rare developmental anomaly, which is included in the anomalies of tooth morphology or shape. Fusion can occur at the level of enamel or enamel and dentin, which results in the formation of a single tooth with enlarged clinical crown ...
Manoj Kumar Hans +2 more
doaj +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source
Latin American Journal of Aquatic Research, 2012 Se presenta claves taxonómicas basadas en características morfológicas dentarias externas e internas, que permiten el reconocimiento de cada orden, familia y género de los batoídeos conocidos en Chile. En algunos casos, como en las familias Rhinobatidae,
Sylvia Sáez, Julio Lamilla
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