Results 161 to 170 of about 3,488,033 (343)
American 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
American 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
Journal of Indian Academy of Oral Medicine and Radiology, 2003 Pigments are defined as substances occuring in living matter, which absorb visible light. They are substances, which possess colour of thier own in their natural state.
Nalin Kumar, T R Saraswathi
doaj
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American 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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Fabrication of Biological Pigment Nanowires by Inkjet Printing
Digital inkjet printing is developing quickly today because inkjet printing processes consume less energy and water and produce less waste discharge than traditional dyeing and other printing technologies.
Cao, Yu
core
Embedding Chemistry and Pharmacy Into Sustainability
Angewandte 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
International Journal of Immunopathology and Pharmacology, 2016 H. Rostami, Hassan Hamedi, M. Yolmeh
semanticscholar +1 more source
Degradation Mechanisms, Encapsulation‐Based Stabilization, and Analytical Detection of Vitamin A
Journal of the American Oil Chemists' Society, EarlyView.ABSTRACT Vitamin A is an important lipid‐soluble micronutrient essential for vision, immune function, and overall growth and development. However, vitamin A is unstable and susceptible to environmental factors because of its conjugated structure and inherent chemical reactivity.
Latheesha Abeywardana +5 more
wiley +1 more source
Asia-Pacific Journal of Chemical Engineering, EarlyView.ABSTRACT Silver‐doped cerium oxide nanoparticles (Ag/CeO2 NPs) were synthesized using Ricinus communis seed extract as a bio‐derived fuel in a solution combustion method. The combustion reaction, carried out at 450°C with AgNO3 and (NH4)2[Ce (NO3)6] as metal precursors, produced CeO2 and Ag/CeO2 NPs.
T. N. Ravishankar +5 more
wiley +1 more source