Results 71 to 80 of about 5,449,771 (353)

The Design and Consideration of Medical Genetics Training Courses for Clinical Physicians Specializing in Rare Diseases

罕见病研究
The diagnosis and treatment of rare diseases have long been significant challenges in the medical practice. With the rapid development of genomics and genetics, medical genetics has been widely applied in the diagnosis and treatment of rare diseases ...
LIU Yaping, SHEN Min, ZHANG Shuyang
doaj   +1 more source

Puzzles in modern biology. IV. Neurodegeneration, localized origin and widespread decay [version 1; referees: 2 approved]

F1000Research, 2016
The motor neuron disease amyotrophic lateral sclerosis (ALS) typically begins with localized muscle weakness. Progressive, widespread paralysis often follows over a few years.
Steven A. Frank
doaj   +1 more source

Research in medical education [PDF]

, 2009
The year 2009 saw a number of developments in Medical Education in Malta that were initiated as a result of a commitment to revising the medical curriculum in order to meet the challenges in medical education.
Vassallo, Josanne
core  

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

FEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao, Qiangbing Yang, Christian J.B. Snijders Blok, Mark A. Daniels, Pieter A. Doevendans, Raymond Schiffelers, Joost P.G. Sluijter, Zhiyong Lei   +7 more
wiley   +1 more source

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data [version 1; referees: 2 approved]

Wellcome Open Research, 2017
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a ...
Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman   +10 more
doaj   +1 more source

Pan‐cancer analysis of mutations in open chromatin regions and their possible association with cancer pathogenesis

Cancer Medicine, 2022
Background Open chromatin is associated with gene transcription. Previous studies have shown that the density of mutations in open chromatin regions is lower than that in flanking regions because of the higher accessibility of DNA repair machinery ...
Chie Kikutake, Mikita Suyama
doaj   +1 more source

The European Society of Human Genetics: beginnings, early history and development over its first 25 years [PDF]

, 2017
The European Society of Human Genetics (ESHG) was founded on 15 March 1967, after preliminary discussions at the International Human Genetics Congress in Chicago the previous year and in Copenhagen in early 1967.
Harper, Peter
core   +1 more source

Genetic Factors in Febrile Seizures

Pediatric Neurology Briefs, 1992
Population based twin panels containing 14,352 twin pairs established in Norway and Virginia were used to study the occurrence of febrile seizures and epilepsy at the Departments of Human Genetics and Neurology, Medical College of Virginia, Virginia ...
J Gordon Millichap
doaj   +1 more source

Array genotyping as diagnostic approach in medical genetics

Molecular Genetics & Genomic Medicine, 2022
Genotyping arrays are by far the most widely used genetic tests but are not generally utilized for diagnostic purposes in a medical context. In the present study, we examined the diagnostic value of a standard genotyping array (Illumina Global Screening ...
Martina Witsch‐Baumgartner, Gunda Schwaninger, Simon Schnaiter, Franziska Kollmann, Silja Burkhard, Rebekka Gröbner, Beatrix Mühlegger, Esther Schamschula, Peter Kirchmeier, Johannes Zschocke   +9 more
doaj   +1 more source

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service [PDF]

, 2015
Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic ...
A Norris, A Trepanier, Astrid Weber, ATM Dierick-van Daele, B Zellerino, C Barnes, C Cordier, Caroline Benjamin, Catherine Houghton, Chris Edgar, CL Bennett, Claire Foo, D Evans, DH Peters, E McCann, G Martin, G Richardson, Gail Mannion, H Burton, H Skirton, H Skirton, Heather Skirton, Ian Ellis, Jan Birch, JGR Kromberg, JGR Kromberg, L Goldsmith, M Kirk, M McAllister, M McAllister, MD Schwartz, P Craig, R Iredale, RN Battista, S Cohen, SA Cohen, T Rigter, Türem Delikurt, V Hannig   +38 more
core   +1 more source