Results 21 to 30 of about 163,801 (186)

yatisht/usher: v0.6.3

open access: yes, 2023
<ul> <li>Several minor bug fixes (https://github.com/yatisht/usher/pull/329 – https://github.com/yatisht/usher/pull/355)</li> </ul ...
Adriano Schneider   +18 more
core   +1 more source

yatisht/usher: v0.5.6

open access: yes, 2022
Added simulation scripts for RIPPLES (https://github.com/yatisht/usher/pull/250)
Adriano Schneider   +16 more
core   +1 more source

yatisht/usher: v0.5.5

open access: yes, 2022
Updated RIPPLES workflow (https://github.com/yatisht/usher/pull/249).
Yatish Turakhia
core   +1 more source

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies

open access: yesOrphanet Journal of Rare Diseases, 2022
Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness.
Aymane Bouzidi   +6 more
doaj   +1 more source

Chaperone/usher machinery [PDF]

open access: yes, 2012
Many virulence organelles of Gram-negative bacterial pathogens are assembled via the periplasmic chaperone/usher (CU) pathway. The assembly process is a complex task, involving secretion of organelle subunits via the two membranes and periplasm, subunit ...
Yu, Xiaodi
core   +1 more source

Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II

open access: yesBiomédica: revista del Instituto Nacional de Salud, 2011
Introducción. El síndrome de Usher se caracteriza por hipoacusia neurosensorial congénita, retinitis pigmentaria y disfunción vestibular. Es la causa más frecuente de sordo-ceguera en el mundo.
Greizy López   +2 more
doaj   +1 more source

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

open access: yesBMC Medical Genomics, 2018
Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL.
Rubén Cabanillas   +25 more
doaj   +1 more source

Overlap Syndromes in Autoimmune Connective Tissue Diseases

open access: yesActa Medica Bulgarica
Autoimmune connective tissue diseases are a group of immune disorders, characterized by different clinical features, which affects not only the skin but also different organs and systems.
Dourmishev L. A.
doaj   +1 more source

Proteome scanning to predict PDZ domain interactions using support vector machines

open access: yesBMC Bioinformatics, 2010
Background PDZ domains mediate protein-protein interactions involved in important biological processes through the recognition of short linear motifs in their target proteins.
Bader Gary D, Hui Shirley
doaj   +1 more source

Establishment of pediatric reference ranges for circulating naïve and memory T and B cell subsets guided by the human immunophenotyping consortium standardization initiative: A large, single center U.S. experience

open access: yesCytometry Part B: Clinical Cytometry, EarlyView.
Abstract Our knowledge of the immune system continues to expand at a rapid pace, and this coupled with technological advances now enables us to interrogate both the breadth and the depth of the immune response at levels without precedent. This has also facilitated rapidly integrating some of this carefully vetted knowledge into clinical practice ...
Aaruni Khanolkar, Aisha Ahmed
wiley   +1 more source

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