Results 121 to 130 of about 8,820 (262)

The trend toward digital in medical education – playing devil's advocate

Advances in Medical Education and Practice, 2015
Osama Al-jibury, Maroof Ahmed, Muhammad Najim, Riham Rabee, Muhammad Ashraf, Yusuf Sherwani, Osama AnjumDepartment of Medicine, Imperial College Medical School, London, UKDigitalization of medical resources has completely revolutionized medical education.
Al-Jibury O, Ahmed M, Najim M, Rabee R, Ashraf M, Sherwani Y, Anjum O   +6 more
doaj  

A rare occurrence of xanthine urolithiasis in siblings with Lesch–Nyhan syndrome treated with Allopurinol—a case report

Bulletin of the National Research Centre
Introduction Lesch–Nyhan syndrome (LNS) is an X-linked disorder affecting the metabolism of the purine salvage pathway leading to excessive serum uric acid production.
Roberto Jodorkovsky, Saloni Trivedi, Asama Rana, Mitchell Thomae   +3 more
doaj   +1 more source

Nyhan-Lesch Syndrome and Juvenile Gout (Two Cases) [PDF]

, 1968
Rodney Bluestone, E. G. L. Bywaters, Lennox Holt   +2 more
openalex   +1 more source

Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg. [PDF]

J Korean Assoc Oral Maxillofac Surg, 2023
Shapira J.
europepmc   +1 more source

A High-Performance List Decoding Algorithm for Surface Codes with Erroneous Syndrome [PDF]

arXiv
Quantum error-correcting codes (QECCs) are necessary for fault-tolerant quantum computation. Surface codes are a class of topological QECCs that have attracted significant attention due to their exceptional error-correcting capabilities and easy implementation.
arxiv  

Brain network efficiency is influenced by pathological source of corticobasal syndrome [PDF]

arXiv, 2016
Multimodal neuroimaging studies of corticobasal syndrome using volumetric MRI and DTI successfully discriminate between Alzheimer's disease and frontotemporal lobar degeneration but this evidence has typically included clinically heterogeneous patient cohorts and has rarely assessed the network structure of these distinct sources of pathology.
arxiv  

BOIS 412/812: Human Genetics—A Peer Review of Teaching Project Benchmark Portfolio [PDF]

, 2016
This portfolio focuses on Human Genetics, an upper-division course taken primarily by biology majors to fulfill elective credit in their degree. This course studies the genetic basis for human variation, with the goal of placing this variation in the ...
Meiklejohn, Colin D
core   +3 more sources

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Stem Cell Research
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by ...
Yue Li, Huawei Zhang, Jingyun Guan, Bin Wang, Haiyan Zhang, Yi Liu, Zhongtao Gai   +6 more
doaj  

Properties of Syndrome Distribution for Blind Reconstruction of Cyclic Codes [PDF]

arXiv, 2017
In the problem of blind reconstruction of channel codes, the receiver does not have the knowledge of the channel code used at the transmitter and the aim is to identify this unknown channel code corresponding to the given received sequence. In this paper, we study this blind reconstruction problem for binary cyclic codes.
arxiv