Results 91 to 100 of about 4,953,128 (334)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

open access: yesGenetics in Medicine, 2021
David T. Miller   +17 more
semanticscholar   +1 more source

Protecting trust in medical genetics in the new era of forensics

open access: yesGenetics in Medicine, 2018
We have recently witnessed two dramatic advances in the capabilities of forensic genetics. First, the use of public genealogy databases to identify criminals (as publicized by the Golden State Killer case), and secondly, the advancing science of trait ...
Caitlin I. Curtis   +4 more
semanticscholar   +1 more source

Chemoresistome mapping in individual breast cancer patients unravels diversity in dynamic transcriptional adaptation

open access: yesMolecular Oncology, EarlyView.
This study used longitudinal transcriptomics and gene‐pattern classification to uncover patient‐specific mechanisms of chemotherapy resistance in breast cancer. Findings reveal preexisting drug‐tolerant states in primary tumors and diverse gene rewiring patterns across patients, converging on a few dysregulated functional modules. Despite receiving the
Maya Dadiani   +14 more
wiley   +1 more source

Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

open access: yesJournal of Advances in Medical Education and Professionalism, 2014
Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests.
MAHDI BIJANZADEH
doaj  

Triagem neonatal: o que os pediatras deveriam saber Newborn screening: what pediatricians should know

open access: yesJornal de Pediatria, 2008
OBJETIVO: Revisão da literatura para avaliar a situação da triagem neonatal no mundo e no Brasil. Definir o papel do pediatra nos programas de triagem neonatal.
Letícia Lima Leão   +1 more
doaj   +1 more source

Progress in Medical Genetics, vol 5. [PDF]

open access: green, 1968
E. David Weinstein
openalex   +1 more source

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

open access: yesGenetics in Medicine, 2021
C. Rehder   +9 more
semanticscholar   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

open access: yesMolecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez   +17 more
wiley   +1 more source

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