Results 251 to 260 of about 187,376 (271)

Not So Smooth Sailing: FIG4‐Related Disease Is a Differential Diagnosis of Rapid Onset Dystonia‐Parkinsonism

Movement Disorders Clinical Practice, EarlyView.
Matthew Julian Georgiades, Duncan Wilson, Maria Garcia, Robert Boland‐Freitas, Hugo Morales‐Briceño, Neil Mahant, Victor Shue Chung Fung, Andrew Martin   +7 more
wiley   +1 more source

Adult‐Onset Dystonia‐Parkinsonism: Do Not Forget SERAC1

Movement Disorders Clinical Practice, EarlyView.
Giulia Scacciatella, Costanza Masetti, Vidal Yahya, Mauro Treddenti, Gaia Oggioni, Tommaso Bocci, Laura Campiglio, Manuela Zardoni, Chiara Rosci, Marta Pengo, Chiara Manfredi, Roberto Del Bo, Edoardo Monfrini, Alessio Di Fonzo, Maurizio Inghilleri, Alberto Priori   +15 more
wiley   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Whole Exome Sequencing

Dermatitis, 2013
Our goal is to highlight annually a methodology of significance to the journal's domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.We hope another strength of this new section is simplicity of language that
and Anthony A. Nuara, Donald A. Glass
openaire   +3 more sources

Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Barry H. Thompson, Wayne W. Grody, Louanne Hudgins   +2 more
openaire   +3 more sources

Whole exome and whole genome sequencing

Current Opinion in Pediatrics, 2011
The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care.Advances in instrumentation have dramatically reduced the cost of DNA sequencing.
David P. Bick, David Dimmock
openaire   +3 more sources

Genetic Diagnosis through Whole-Exome Sequencing

New England Journal of Medicine, 2014
To the Editor: Yang et al. (Oct. 17 issue)(1) report the application of whole-exome sequencing in 250 patients with a potentially genetic disease, which resulted in a molecular diagnosis in 25% of them. A total of 30 patients had medically actionable incidental findings in a total of 16 genes; 18 of these patients had genotypes that the American ...
Paul A. van der Zwaag, J. Peter van Tintelen, Jan D. H. Jongbloed   +2 more
openaire   +7 more sources

Regulating whole exome sequencing as a diagnostic test [PDF]

Human Genetics, 2016
In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole exome sequencing (WES) has become available as a diagnostic test performed in certified clinical ...
Cristina da Silva, Madhuri Hegde, Lindsey Mighion, Ymkje Cuperus, Lora J. H. Bean, Valentina Lapin   +5 more
openaire   +2 more sources

Prenatal whole‐exome sequencing: parental attitudes

Prenatal Diagnosis, 2015
AbstractObjectiveThe aim of this study was to survey the opinions of expectant parents regarding prenatal whole‐exome sequencing.MethodsThe study used a questionnaire that focused on acceptability of prenatal whole‐exome sequencing to individuals who pursued first‐trimester prenatal screening in a tertiary academic medical center.
Andrew D. Althouse, Lisa S. Parker, Aleksandar Rajkovic, Devereux N. Saller, Eve J. Kalynchuk   +4 more
openaire   +2 more sources