Results 11 to 20 of about 27,666 (237)
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023 Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani +10 more
wiley +1 more source
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
The Anatomical Record, EarlyView., 2023 Abstract Neochelys is an exclusively European Eocene podocnemidid genus belonging to a linage that reached this continent at the early Eocene. The so far available anatomical information about it is relatively abundant, especially considering that of its shell, at least partially preserved for the eight valid species currently considered.
Marcos Martín‐Jiménez +1 more
wiley +1 more source
Telediagnosis of dental caries: Possible or impossible? A pilot cross‐sectional study
Clinical and Experimental Dental Research, Volume 8, Issue 6, Page 1614-1622, December 2022., 2022 Abstract Objectives The aims of this study were to evaluate the effectiveness of teledentistry (based on a home intraoral imaging protocol) in detecting dental caries and to assess the accuracy of this method compared to clinical examination. Methods Forty‐three patients were recruited for the study. Using a protocol for taking intraoral photographs at
Francesca Zotti +5 more
wiley +1 more source
, 2023 American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno +11 more
wiley +1 more source
Case Reports in Dermatology, 2013 A malignant transformation is known to occur in many nevi such as a sebaceous nevus or a basal cell nevus, but a verrucous epidermal nevus has only rarely been associated with neoplastic changes.
Hassan Riad +5 more
doaj +1 more source
Indian Journal of Dermatology, 2013 Nevus of Ota and nevus of Ito are rare dermal melanocytoses. Nevus of Ota may be very rarely associated with the nevus of Ito and other extra cutaneous features. Both nevi are similar in all respect apart from the area of distribution.
Amiya Kumar Mukhopadhyay
doaj +1 more source
Explainable human‐in‐the‐loop healthcare image information quality assessment and selection
CAAI Transactions on Intelligence Technology, EarlyView., 2023 Abstract Smart healthcare applications cannot be separated from healthcare data analysis and the interactive interpretability between data and model. A human‐in‐the‐loop active learning approach is introduced to reduce the cost of healthcare data labelling by evaluating the information quality of unlabelled medical data and then screening the high ...
Yang Li, Sezai Ercisli
wiley +1 more source
Follicular Becker's nevus: A new clinical variant
Indian Journal of Dermatology, 2020 Becker's nevus, also known as pigmented hairy epidermal nevus, is characteristically described as a unilateral, hairy, light to dark brown macule with sharply outlined but irregular border.
Yashpal Manchanda +4 more
doaj +1 more source
The first case of vaginal angiomatoid Spitz nevus causing vaginal bleeding [PDF]
Obstetrics & Gynecology Science, 2019 Angiomatoid Spitz nevus is a variant of melanocytic nevus with prominent vasculature. Due to its pathologic features, angiomatoid Spitz nevus in the vaginal wall is extremely rare.
Yong Hee Park +7 more
doaj +1 more source