Results 61 to 70 of about 20,352 (198)
JIMD Reports, Volume 66, Issue 3, May 2025.ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet +11 more
wiley +1 more source
MARFAN SYNDROME PRESENTING WITH BILATERAL RETINAL DETACHMENT
National Journal of Medical Research, 2014 Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessels. Eye involvement may be in the form of retinal
Subrata Chakrabarti, Koushik Pan
doaj
Syndrome Measurement Order for the [[7,1,3]] Quantum Error Correction Code [PDF]
arXiv, 2013 In this work we explore the accuracy of quantum error correction depending of the order of the implemented syndrome measurements. CSS codes require bit-flip and phase flip-syndromes be measured separately. To comply with fault tolerant demands and to maximize accuracy this set of syndrome measurements should be repeated allowing for flexibility in the ...
arxiv
Clinical Genetics, Volume 107, Issue 5, Page 485-494, May 2025.This systematic review identifies 137 SNPs linked to genetic disorders affecting foot morphology but finds no direct studies on common foot arch variations. The findings highlight a research gap and emphasize the need for large‐scale genetic studies to distinguish between natural variations and pathology‐driven foot deformities.
Yukun He +4 more
wiley +1 more source
A preliminary ex vivo diffusion tensor imaging study of distinct aortic morphologies
Journal of Anatomy, Volume 246, Issue 5, Page 745-756, May 2025.DTI‐derived tractography of distinct aortic pathologies. Abstract Changes in the microstructure of the aortic wall precede the progression of various aortic pathologies, including aneurysms and dissection. Current clinical decisions with regards to surgical planning and/or radiological intervention are guided by geometric features, such as aortic ...
B. Tornifoglio +8 more
wiley +1 more source
Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia
Lung India, 2009 We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor.
Kate A, Gothi D, Joshi J
doaj
Revista Ciências em Saúde, 2014 Introdução: A síndrome de Marfan (SMF) é uma doença do tecido conjuntivo, com herança autossômica dominante com incidência de 2-3 para cada 10.000 indivíduos.Casuística: Relataremos um caso de um paciente portador de Síndrome de Marfan que foi ...
Eduardo Tadeu Ramos Almeida +2 more
doaj +1 more source
Ophthalmic and Physiological Optics, Volume 45, Issue 3, Page 742-751, May 2025.Abstract Purpose To evaluate the sensitivity and specificity of the PlusOptix S12C device in detecting amblyopia risk factors (ARFs) in children aged 2–7 years, in accordance with the 2020 Israeli Ministry of Health (MOH) directives and the 2021 American Association for Pediatric Ophthalmology and Strabismus (AAPOS) guidelines.
Hadas Ben‐Eli +5 more
wiley +1 more source
Correction of Data and Syndrome Errors by Stabilizer Codes [PDF]
arXiv, 2016 Performing active quantum error correction to protect fragile quantum states highly depends on the correctness of error information--error syndromes. To obtain reliable error syndromes using imperfect physical circuits, we propose the idea of quantum data-syndrome (DS) codes that are capable of correcting both data qubits and syndrome bits errors.
arxiv