Results 51 to 60 of about 126,632 (265)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco +2 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT The 2023 Australian Voice to Parliament Referendum presented a pivotal moment in the nation's democratic landscape. Despite support for Indigenous well‐being, the referendum did not secure the necessary approval, prompting extensive analysis of its outcome.
Scott Baum, William Mitchell
wiley +1 more source
The Anatomical Record, EarlyView.Abstract The upper carbonate concretion levels of the Romualdo Formation (Aptian, Brazil) have yielded several theropod dinosaur remains, including spinosaurids and the coelurosaurs Santanaraptor placidus and Mirischia asymmetrica, the phylogenetic affinities of which are controversial.
Rafael Delcourt +4 more
wiley +1 more source
La entrada de un modelo arquitectónico federiciano en el Reino de Castilla: la Torre de don Fadrique
Anales de Historia del Arte, 2010 This article will analyze the possible relationships between the architecture promoted by Federico II in the south of Italy and the construction that, later on, was undertaken by the infante Fadrique of Castile in Seville, known as don Fadrique’s Tower ...
Laura Molina López
doaj
The Anatomical Record, EarlyView.Abstract Hadrosaurid dinosaurs are generally regarded as “crested” or “non‐crested” depending on the presence or absence of a bony cranial crest. At least one supposedly “non‐crested” hadrosaur is known to have possessed a soft tissue cranial crest (or comb), based on an exceptionally preserved “mummified” specimen. Here we redescribe this specimen and
Henry S. Sharpe +4 more
wiley +1 more source
Osteohistology of two phorusrhacids reveals uninterrupted growth strategy
The Anatomical Record, EarlyView.Abstract Phorusrhacidae were apex predators that primarily dominated South America ecosystems for at least 40 million years with their imposing size and predatory lifestyle—yet some aspects of their biology remain poorly understood. Osteohistology is a tool for understanding growth dynamics and biomechanical adaptations.
Lotta Dreyer +2 more
wiley +1 more source
Carlo Sigonio, L’antico regime giuridico dei cittadini romani
History of Classical ScholarshipCarlo Sigonio, L’antico regime giuridico dei cittadini romani traduzione italiana e note a cura di Mattia Balbo, Michele Bellomo, Annarosa Gallo e Federico Santangelo introduzione di Federico Santangelo La prima traduzione in una lingua moderna del ...
Mattia Balbo +3 more
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Popular Music Research Today, 2019 Este artículo analiza en profundidad la música de una de las primeras películas de Federico Fellini: I vitelloni (1953). Es la primera parte de un estudio que quiere recorrer las películas con claro contenido autobiográfico entre las dirigidas por ...
Ignacio Saavedra Inaraja
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The Anatomical Record, EarlyView.Abstract Arhinolemur scalabrinii† Ameghino, 1898 was originally described as a strepsirrhine primate (Mammalia) but has been recognized as an anostomid fish since 2012. It remains the only extinct anostomid species known from complete cranial material.
Karen M. Panzeri +8 more
wiley +1 more source