Results 131 to 140 of about 56,716 (332)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Primary dentition 2 [PDF]

open access: yesBritish Dental Journal, 2004
N Attari, J F Roberts
openaire   +1 more source

Morphological diversity of saber‐tooth upper canines and its functional implications

open access: yesThe Anatomical Record, EarlyView.
Abstract Elongated upper canine teeth, commonly known as saber‐teeth, have evolved three times within the sub‐order Feliformia. The species that wielded them flourished throughout the Cenozoic and have historically been separated into two morphological groups: the dirk‐tooths with longer, flatter canines, and the scimitar‐tooths with shorter, serrated ...
Caitlin D. Shelbourne   +1 more
wiley   +1 more source

Myological and osteological approaches to gape and bite force reconstruction in Smilodon fatalis

open access: yesThe Anatomical Record, EarlyView.
Abstract Masticatory gape and bite force are important behavioral and ecological variables. While much has been written about the highly derived masticatory anatomy of Smilodon fatalis, there remains a great deal of debate about their masticatory behaviors.
Ashley R. Deutsch   +5 more
wiley   +1 more source

Replication of Known Dental Characteristics in Porcine Skin: Emerging Technologies for the Imaging Specialist [PDF]

open access: yes, 2014
This study demonstrates that it is sometimes possible to replicate patterns of human teeth in pig skin and determine scientifically that a given injury pattern (bite mark) correlates with the dentitions of a very small proportion of a population dataset,
Ahn, Kwang Woo   +9 more
core   +1 more source

Mesiodens in primary and permanent dentitions

open access: yesOral Surgery, Oral Medicine, Oral Pathology, 1975
Abstract A case of a mesiodens in the deciduous dentition followed by a mesiodens in the same location in the permanent dentition is presented and discussed.
openaire   +4 more sources

Predicting ecology and hearing sensitivities in Parapontoporia—An extinct long‐snouted dolphin

open access: yesThe Anatomical Record, EarlyView.
Abstract Analyses of the cetacean (whale and dolphin) inner ear provide glimpses into the ecology and evolution of extinct and extant groups. The paleoecology of the long‐snouted odontocete (toothed whale) group, Parapontoporia, is primarily marine with its depositional context also suggesting freshwater tolerance.
Joyce Sanks, Rachel Racicot
wiley   +1 more source

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