Results 81 to 90 of about 51,591 (290)
Microfluidic Valve‐Integrated Garment for Smooth Sequential Gradient Mechanotherapy
Advanced Intelligent Systems, EarlyView.We present a soft wearable sleeve that delivers smooth, gap‐free compression using overlapping air‐filled actuators and tiny microfluidic valves. The system reduces bulk, lowers power needs, and uses a smartphone‐sized control box. It can provide sequential gradient compression, gradient pressure holding, and fast deflation, supporting more portable ...
Run Ze Gao +5 more
wiley +1 more source
Therapeutic Advances in Rare Disease, 2020 Bietti crystalline dystrophy (BCD), a rare autosomal recessive hereditary disorder, is identified by its clinical features. It is characterised by crystalline deposits and hence called crystalline retinopathy. The retinopathy progresses with age, showing
Abhidnya Surve +5 more
doaj +1 more source
Interactions between nuclear lamins and their binding partners in EDMD fibroblasts [PDF]
, 2003 Lamins are components of the nuclear lamina and are divided In A and B-types, which Interact with proteins of the inner nuclear membrane like emerin.
Alvarez-Reyes, Mauricio
core
Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran
, 2015 How to Cite This Article: Barzegar M, Habibi P, Bonyady M, Topchizadeh V, Shiva Sh. Exon Deletion Pattern in Duchene Muscular Dystrophy in North West of Iran. Iran J Child Neurol.
HABIBI, Parinaz +4 more
core +1 more source
Advanced Intelligent Systems, EarlyView.HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino +9 more
wiley +1 more source
Reticular Dystrophy of the Retinal Pigment Epithelium
Journal of the Formosan Medical Association, 2007 A laser flare-cell meter was used to examine blood-aqueous barrier function in a 57-year-old male patient who had typical reticular dystrophy of the retinal pigment epithelium with a bilateral hyperpigmented reticular pattern at the posterior pole in ...
Muh-Shy Chen +4 more
doaj +1 more source
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers
, 2017 Purpose: To describe clinical and molecular characteristics in a group of Italian female choroideremia (CHM) carriers and report fundus patterns. Methods: We retrospectively studied 11 female carriers belonging to six CHM families examined at the ...
Rizzo S., Virgili G.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad +6 more
wiley +1 more source
, 2007 Contains fulltext : 53457.pdf (Publisher’s version ) (Open Access)AIM: To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1 ...
Klevering, B.J. +22 more
core +1 more source
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