Results 161 to 170 of about 121,573 (346)

Congenital neurodevelopmental anomalies in pediatric and young adult cancer [PDF]

open access: yes, 2017
Agha   +59 more
core   +2 more sources

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon   +20 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

[Urinary neopterin levels in patients with genitourinary tract malignancies].

open access: yesNihon Hinyokika Gakkai zasshi. The japanese journal of urology, 1997
T. Asano   +5 more
semanticscholar   +1 more source

Unraveling the Genomic Architecture of Supernumerary (Iso‐)Dicentric Chromosomes in Dup15q Syndrome: Insight From a Systematic Literature‐Based Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chromosomal aberrations, particularly copy‐number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy‐number gains (CN gains) in 15q11‐q13, primarily consisting of a pseudo (iso‐)dicentric chromosome 15 [(i)dic(15)] or an interstitial duplication, are among the most ...
Sebastian Burkart   +5 more
wiley   +1 more source

A survey of attitudes of patients in a department of genitourinary medicine.

open access: yesThe British journal of venereal diseases, 1978
M. Balsdon   +3 more
semanticscholar   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

Respiratory virus mRNA vaccines: mRNA Design, clinical studies, and future challenges

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Abstract Respiratory infectious diseases frequently erupt on a global scale, with RNA viruses, such as SARS‐CoV‐2, RSV, and influenza viruses, posing challenges to vaccine development due to their high mutation rates. Traditional vaccine development cycles are lengthy and struggle to keep pace with rapidly evolving viruses, whereas messenger RNA (mRNA)
Linlin Zheng, Han Feng
wiley   +1 more source

Home - About - Disclaimer - Privacy