Results 51 to 60 of about 5,302,158 (304)
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Nucleic Acids Res., 2004 Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics.
A. Hamosh +4 more
semanticscholar +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Osteosarcoma (OS) and Ewing sarcoma (EWS) are the most common primary bone cancers in children, but acute thrombosis is poorly characterized in this population. Our study evaluated the rates of venous thromboembolism (VTE) and associated risk factors in pediatric patients with bone sarcomas treated over a 10‐year period encompassing
Sarah Kappa +8 more
wiley +1 more source
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
PLoS ONE, 2023 The classification and interpretation of genetic variants associated with genetic diseases have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic findings
Adam Coovadia +3 more
doaj +1 more source
Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases
Human Mutation, 2014 Congenital erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels ...
C. Bento +51 more
semanticscholar +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Wilms tumor (WT) treatment imposes a significant time burden on patients and their families. Time toxicity is a patient‐centered metric that quantifies the burden of healthcare interaction. We sought to define time toxicity in the first year after diagnosis of WT and hypothesized that it would increase as tumor stage and treatment ...
Caleb Q. Ashbrook +6 more
wiley +1 more source
Supporting Survivor‐Centered Care Through Digital Health Integration
Pediatric Blood &Cancer, EarlyView.ABSTRACT Survivors of childhood cancer face barriers to receiving guideline‐based, long‐term follow‐up care. Two digital tools, Passport for Care (PFC) and Cancer SurvivorLink (SurvivorLink), address complementary gaps by enabling tailored survivorship care plan (SCP) generation, updating, storage, and sharing.
Jordan G. Marchak +15 more
wiley +1 more source
bioRxiv, 2016 Motivation LD score regression is a reliable and efficient method of using genome-wide association study (GWAS) summary-level results data to estimate the SNP heritability of complex traits and diseases, partition this heritability into functional ...
Jie Zheng +20 more
semanticscholar +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
Biomedical ethics and genetic epidemiology [PDF]
, 2004 Biomedical ethics developed in the late twentieth century as a challenge to the self- regulatory ethic that previously governed medical practice. Yet in recent years bioethics has come under scrutiny from the social sciences, which claim that the field ...
Whong-Barr, Michael
core
Current Protocols in Bioinformatics, 2017 Online Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them.
J. S. Amberger, A. Hamosh
semanticscholar +1 more source