Results 91 to 100 of about 93,583 (263)

VALIANT: A Vision‐Authenticity Language Framework Through Integrated Experts and Aligned Numerical‐Textual Descriptors for Citri Reticulatae Pericarpium

open access: yesAdvanced Intelligent Systems, EarlyView.
Visual features, numerical descriptors, and controlled textual attributes extracted from smartphone images of Chenpi are integrated by VALIANT, a tailored multimodal framework for simultaneous storage‐age classification and authenticity verification. The workflow distinguishes genuine products from suspicious standard operating procedure mimics while ...
Simon C. K. Chan   +5 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi   +6 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Fusarium verticillioides pigment: production, response surface optimization, gamma irradiation and encapsulation studies

open access: yesBMC Biotechnology
Background Natural pigments are becoming more significant because of the rising cost of raw materials, pollution, and the complexity of synthetic pigments.
Mai Ali Mwaheb   +4 more
doaj   +1 more source

Embedding Chemistry and Pharmacy Into Sustainability

open access: yesAngewandte Chemie International Edition, EarlyView.
Chemistry and pharmacy provide products and processes that are indispensable for our high living standard. To understand their relationship with sustainability is important to allow them to contribute to sustainability in a sustainable manner. An integrated overview of green, circular, and sustainable chemistry and pharmacy is given and how they have t
Klaus Kümmerer
wiley   +1 more source

Identification of a Red Pigment-Producing Strain of Arthrobacter spp. and the Stability of Its Pigments

open access: yesMicroorganisms
With the rise of environmental protection and health topics in recent years, microbial production of red pigments has gradually become a research hotspot. Red pigment possesses biological properties such as anticancer and antioxidant activities and has a
Jinjun Wang, Mingliang Yang, Xinru Gao
doaj   +1 more source

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