Results 121 to 130 of about 31,523 (289)
Clinical Genetics, EarlyView.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source
Clinical Genetics, EarlyView.The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana +7 more
wiley +1 more source
Dental anomalies as part of the cleft spectrum.
, 2008 OBJECTIVE: The aim of this study was to determine subphenotypes of clefts based on tooth development. Dental phenotypes (tooth agenesis, supernumerary and impacted teeth, transposition, and structural anomalies) outside the cleft area in the permanent ...
Vieira, Alexandre Rezende +1 more
core +1 more source
Clinical Genetics, EarlyView.We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon +9 more
wiley +1 more source
Smile Stories: Investigating Pediatric Dental Anomalies a Cross-Sectional Study
Journal of Islamic International Medical CollegeObjective: Determination of the frequency and distribution of dental anomalies across different age groups and gender within the pediatric population. Study Design: Cross-sectional observational study.
Mehwash Kashif , Irum Munir Raja , Uzma Zareef , Amna Rehman , Sana Adeeba Islam , Nabeel Khan
doaj +1 more source
Dens Invaginatus as a Biomechanical Risk Modifier in Dental Trauma: Finite Element Analysis
Dental Traumatology, EarlyView.ABSTRACT Introduction/Aims Traumatic dental injuries are common in childhood and may adversely affect functional and psychosocial well‐being. Dens invaginatus, a developmental anomaly caused by the infolding of the enamel organ during odontogenesis, alters tooth morphology and may influence biomechanical behavior under traumatic loading.
Emine Şuranur Ayaz +6 more
wiley +1 more source
European Journal of Dental Education, EarlyView.ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer +4 more
wiley +1 more source
European Journal of Oral Sciences, EarlyView.Abstract This study evaluated the effect of the number of simulated endodontic treatment visits and the type of irrigant on the surface roughness, microhardness, topography, and fracture resistance of root dentin. Bovine roots were distributed into six groups (n = 14) according to the irrigant and number of treatment visits: 0.9% saline solution ...
Yasmin Padoin +5 more
wiley +1 more source
Stapled side‐to‐side anastomosis to treat a pelvic flexure stricture in a miniature horse
Equine Veterinary Education, EarlyView.Summary Fecaliths are a recognised cause of non‐strangulating colon obstruction in horses. Although they more commonly obstruct the small colon, they can also lodge in the pelvic flexure, requiring enterotomy for removal. Stricture at the enterotomy site is an uncommon but surgically significant complication.
M. Baglioni +5 more
wiley +1 more source
Atlas of Pediatric Oral and Dental Developmental Anomalies
, 2019 A quick reference diagnostic guide for students and clinicians, covering a wide range of oral and dental developmental anomalies in children and adolescents Written by world-renowned pediatric dentists, this easily accessible, well-illustrated ...
Golpayegani, Mojtaba Vahid +2 more
core +1 more source