Results 101 to 110 of about 6,062,135 (332)

What is Magi?

The EuroBiotech Journal, 2017
MAGI is concerned with research and diagnosis of rare genetic diseases. It has been operating since 2006 in Italy and abroad. Today it has three centers in Italy, including a medical genetics laboratory specialized in next generation sequencing in ...
Manara Elena, Abeshi Andi, Bertelli Matteo   +2 more
doaj   +1 more source

Die gesondheidsvoorligtingsfunksie van die verpleegkundige met betrekking tot mensgenetika

Curationis, 1981
The nurse, as a key person in health services, has an essential role in health education regarding human and medical genetics. This education is given at both community and individual level.
Frieda Paton
doaj   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Ethnic Differences in the Association Between SOD2 rs4880 and Hepatotoxicity in Pediatric Acute Lymphoblastic Leukemia: A Report From the REDIAL Consortium

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Treatment‐associated hepatotoxicity (TAH) is a common complication of pediatric acute lymphoblastic leukemia (ALL) treatment, but genetic risk factors remain poorly understood. We evaluated the SOD2 rs4880 variant in 544 children with ALL at Texas Children's Hospital. After adjusting for demographic and clinical covariates, the rs4880 C allele
Emily J. Mason, John P. Woodhouse, Joanna S. Yi, M. Monica Gramatges, Olga A. Taylor, Veronica A. Morales, Shalini Dhamodharan, Marley Roberts, Karen R. Rabin, Philip J. Lupo, Michael E. Scheurer, Van Huynh, Steven D. Mittelman, Etan Orgel, Austin L. Brown   +14 more
wiley   +1 more source

Identification of somatic mutation-driven enhancers and their clinical utility in breast cancer

iScience
Summary: Somatic mutations contribute to cancer development by altering the activity of enhancers. In the study, a total of 135 mutation-driven enhancers, which displayed significant chromatin accessibility changes, were identified as candidate risk ...
Hongying Zhao, Ke Feng, Junjie Lei, Yaopeng Shu, Lin Bo, Ying Liu, Lixia Wang, Wangyang Liu, Shangwei Ning, Li Wang   +9 more
doaj   +1 more source

Revisión bibliográfica y extractos de revistas

Revista Colombiana de Obstetricia y Ginecología, 1965
"Medical, surgical anda ginecologic complications of pregnancy"   "Progress in medical genetics"
Federación Colombiana de Obstetricia y Ginecología
doaj   +1 more source

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source

Genealogical data in population medical genetics: field guidelines

Genetics and Molecular Biology, 2014
This is a guide for fieldwork in Population Medical Genetics research projects. Data collection, handling, and analysis from large pedigrees require the use of specific tools and methods not widely familiar to human geneticists, unfortunately leading to ...
Fernando A. Poletta, Ieda M. Orioli, Eduardo E. Castilla   +2 more
doaj   +1 more source

Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies [PDF]

, 2019
Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association study (GWAS) approaches are useful for interrogating the genetic architecture and determinants of Tourette’s syndrome and other tic disorders. The authors conducted
Gilles de la Tourette GWAS Replication Initiative, Psychiatric Genomics Consortium Tourette Syndrome Working Group, Tourette Association of America International Consortium for Genetics, Tourette International Collaborative Genetics Study, Woods, Douglas W.   +4 more
core   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source