Results 121 to 130 of about 49,880 (266)

We Are in This Together

Journal of Neuroscience Nursing, 2022
Linda, Nichols, DaiWai M, Olson
openaire   +2 more sources

DNA Extracted From Aged Formalin‐Fixed Paraffin‐Embedded Specimens of Patients With Papillary Thyroid Carcinomas Can Be Used for Whole Exome Sequencing

Journal of Clinical Laboratory Analysis, EarlyView.
We aimed to assess the quality of DNA extracted from long‐term stored FFPE specimens of patients with papillary thyroid carcinoma from three hospitals in Hiroshima and their applicability to whole exome sequencing. FFPE samples preserved for up to 55 years may be amenable to sequencing with increased read depth.
Kousuke Tanimoto, Tomonori Hayashi, Hidewaki Nakagawa, Kazuhiro Maejima, Koji Arihiro, Megumu Fujihara, Takashi Nishisaka, Masahiro Ito, Masahiro Nakashima, Naohiro Kato, Zhenqiu Liu, Misa Imaizumi, Alina Brenner, Stephen J. Chanock, Osamu Tanabe, Kotaro Ozasa   +15 more
wiley   +1 more source

A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders. [PDF]

Ital J Pediatr
Salah S, Mobarak A, Alshanbari SN, Bukhari AA, Alsobhi F, Farahat SAA, Masmali HM.   +6 more
europepmc   +1 more source

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source

Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling. [PDF]

NPJ Genom Med
Tsuji J, Rickles-Young M, Abreu J, Friedman A, Petersen C, Bryan J, Scheffler K, O'Connell T, Heyns T, Malolepsza E, Fleharty M, Larkin K, Livak KJ, Li S, Reardon DA, Wu CJ, Ott PA, Dao F, Rehm H, Jan M, Stewart C, Getz G, Jain V, Catreux S, Cibulskis C, Lennon N.   +25 more
europepmc   +1 more source

Are “Different” Employee–Organizational Bonds All That Different? A Review and Comparative Meta‐Analysis Reconciling Employee–Organizational Bonds Constructs

Journal of Organizational Behavior, EarlyView.
ABSTRACT The fundamental human need to bond, connect, or attach to others is as crucial to humankind as the need for food and water, and this inherent drive extends into the workplace as well. Employee–organizational bonds have long been recognized as central to understanding employees' relationships with their organizations.
Edileide Oliveira, Valerie I. Sessa, Wesley Johnson, Catrina Notari, Frederic Vinal, Nathan A. Bowling   +5 more
wiley   +1 more source

Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure. [PDF]

F S Rep
Tjagur S, Punab M, Dutta A, Laan M.
europepmc   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders. [PDF]

Clin Exp Pediatr
Lee KS, Oh SH, Lee JY, Seo GH, Roh DE, Park JK, Lee BL.   +6 more
europepmc   +1 more source

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source