Results 211 to 220 of about 200,923 (352)
Roadmap on Artificial Intelligence‐Augmented Additive Manufacturing
This Roadmap outlines the transformative role of artificial intelligence‐augmented additive manufacturing, highlighting advances in design, monitoring, and product development. By integrating tools such as generative design, computer vision, digital twins, and closed‐loop control, it presents pathways toward smart, scalable, and autonomous additive ...
Ali Zolfagharian +37 more
wiley +1 more source
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang +6 more
wiley +1 more source
Obstructed Hemivagina and Ipsilateral Renal Anomaly (OHVIRA) Syndrome: A Case Report. [PDF]
Tan YR, Nadarajah R, Tan HK.
europepmc +1 more source
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley +1 more source
Detection of pre-seismic magnetic field anomalies using Swarm satellite data: a case study of the 2025 Mw7.7 Myanmar earthquake. [PDF]
Alimoradi H, Rahimi H, De Santis A.
europepmc +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Low-flow vascular malformations without arteriovenous shunting of the central nervous system: a pictorial review. [PDF]
Nicolosi L +13 more
europepmc +1 more source
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source

