Results 171 to 180 of about 6,051 (234)

Mobile Dental Photography

open access: yesYeditepe Dental Journal
Merve Köseoğlu, Funda Bayındır
openaire   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

open access: yesClinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen   +5 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

Homo luzonensis and the role of homoplasy in the morphology of hominin insular species

open access: yesCladistics, EarlyView.
Abstract Homo luzonensis lived during the upper Pleistocene in the northern Philippines, east of the Wallace line. The few specimens attributed to this species show a mosaic of plesiomorphies for the genus Homo and apomorphies found in upper Pleistocene Homo species.
Pierre Gousset   +4 more
wiley   +1 more source

Long‐Term Clinical, Radiographic and Esthetic Outcomes of Zirconia Dental Implants: A 10‐Year Prospective Multicenter Study

open access: yesClinical Oral Implants Research, EarlyView.
ABSTRACT Objectives This study aimed to prospectively investigate the long‐term clinical performance of a commercially available one‐piece zirconia dental implant system over 10 years. Material and Methods A multicenter, open‐label study was conducted at three clinical centers in Germany.
S. Roehling   +5 more
wiley   +1 more source

Palatal Mucosal Inflammation Caused by an Unusual Foreign Body in an Infant. [PDF]

open access: yesDiagnostics (Basel)
Ikeda S   +4 more
europepmc   +1 more source

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