Results 181 to 190 of about 823,385 (342)

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon   +20 more
wiley   +1 more source

CUTANEOUS VASCULAR AND PIGMENTARY CHANGES IN CASTRATE AND EUNUCHOID MEN

open access: bronze, 1941
Edward A. Edwards   +3 more
openalex   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Cutaneous tuberculosis

open access: yesLung India, 2011
Syed Ahmed Zaki   +2 more
openaire   +3 more sources

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales   +10 more
wiley   +1 more source

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