Results 101 to 110 of about 63,611 (284)

Adult-onset pulmonary involvement in Niemann-Pick disease type B

open access: yesMonaldi Archives for Chest Disease, 2015
Niemann-Pick disease type B is caused by a deficiency in acid sphingomyelinase activity; among the six variants of Niemann-Pick disease known to date, it is the most frequently associated with lung involvement, a major cause of morbidity and mortality in
F. Iaselli   +8 more
doaj   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen   +3 more
wiley   +1 more source

Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1

open access: yesStem Cell Research, 2018
The human induced pluripotent stem cell (hiPSC) line, derived from dermal fibroblasts from Leber congenital amaurosis patient with homozygous mutation c.265 T > C, p.Cys89Arg in aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) was generated ...
Dunja Lukovic   +6 more
doaj   +1 more source

A newly discovered Carolingian text: Candidus' Liber testimoniorum veteris testamenti, written for Charlemagne

open access: yesEarly Medieval Europe, EarlyView.
This article presents a newly discovered Latin text: a theological treatise titled Liber testimoniorum veteris testamenti that was written by Alcuin’s friend Candidus (Wizo) at the request of Charlemagne. By discussing selected passages from the Heptateuch, Candidus seeks to demonstrate that Jesus Christ and the Holy Spirit, thus the whole Christian ...
Lukas J. Dorfbauer
wiley   +1 more source

Generation of a human iPSC line from a patient with retinitis pigmentosa caused by mutation in PRPF8 gene

open access: yesStem Cell Research, 2017
The human iPSC cell line, RP2-FiPS4F1 (RCPFi001-A), derived from dermal fibroblasts from the patient with retinitis pigmentosa caused by the mutation of the gene PRPF8, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC ...
Dunja Lukovic   +6 more
doaj   +1 more source

Ceramic ecology in an Islamic capital: changes in the production and consumption of pottery in Palermo

open access: yesEarly Medieval Europe, EarlyView.
Palermo became the new capital of Sicily after the Aghlabid conquest in 831. The transformation of the city into a capital took many forms, including the production and consumption of pottery. The perspective from ceramic evidence shows that Palermo underwent faster and deeper processes of Islamization than other urban and rural contexts across the ...
Viva Sacco
wiley   +1 more source

Primo New User Interface: Usability Testing and Local Customizations Implemented in Response

open access: yesInformation Technology and Libraries, 2018
Washington State University was the first library system of its 39-member consortium to migrate to Primo New User Interface. Following this migration, we conducted a usability study in July 2017 to better understand how our users fared when the new user ...
B. Galbreath   +2 more
semanticscholar   +1 more source

Relics, writing, and devotion in early medieval Chelles

open access: yesEarly Medieval Europe, EarlyView.
The discovery in 1983 of a collection of relics with their medieval identificatory tags in the parish church of Chelles opened new avenues for research on devotional and writing practices in this Frankish royal foundation. This is the first systematic study of the corpus of relic labels that accompanied these sacred objects, particularly of the subset ...
Ana de Oliveira Dias
wiley   +1 more source

Various stem cells in acupuncture meridians and points and their putative roles

open access: yesJournal of Traditional and Complementary Medicine, 2018
Traditional Chinese and Korean medicine uses various manipulations on acupuncture points/acupoints that are located along imaginary lines on the surface of a human body, which are called ‘meridians’.
Jeanne Adiwinata Pawitan
doaj   +1 more source

Ascetics, slaves, and necessity in Late Antiquity: renouncing all wealth, but for a single slave

open access: yesEarly Medieval Europe, EarlyView.
Slave owners in Late Antiquity viewed the possession of at least one slave to be a necessity and a defining mark that distinguished the dignified social classes from the poor. Ascetics who shared this perspective faced a choice when renouncing all worldly possessions in pursuit of spiritual perfection, one not merely about luxury, but also about status
E.T. Dailey, Justin Pigott
wiley   +1 more source

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