Results 51 to 60 of about 6,062,135 (332)

Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics Centers

JMIR Medical Informatics, 2021
BackgroundParticipation in quality controls, also called external quality assessment (EQA) schemes, is required for the ISO15189 accreditation of the Medical Centers of Human Genetics.
Joséphine Lantoine, Anne Brysse, Vinciane Dideberg, Kathleen Claes, Sofie Symoens, Wim Coucke, Valérie Benoit, Sonia Rombout, Martine De Rycke, Sara Seneca, Lut Van Laer, Wim Wuyts, Anniek Corveleyn, Kris Van Den Bogaert, Catherine Rydlewski, Françoise Wilkin, Marie Ravoet, Elodie Fastré, Arnaud Capron, Nathalie Monique Vandevelde   +19 more
doaj   +1 more source

COUNSELING IN MEDICAL GENETICS

The Journal of Nervous and Mental Disease, 1955
Mode of access: Internet.
openaire   +2 more sources

Comparison of Fluorescein Isothiocyanate-Conjugated and Texas-Red-Conjugated Nucleotides for Direct Labeling in Comparative Genomic Hybridization [PDF]

, 1998
Fil: Larramendy, Marcelo Luis. Cátedra de Citología. Facultad de Ciencias Naturales y Museo. Universidad Nacional de La Plata; ArgentinaFil: Elrifai, Wa`el. Department of Medical Genetics. Haartman Institute. University of Helsinki. Helsinki; FinlandFil:
Elrifai, Wa`el, Knuutila, Sakari, Larramendy, Marcelo Luis   +2 more
core  

External quality assessment of molecular biology-based methods used in laboratories of clinical chemistry and human genetics [PDF]

, 1998
The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis.
Braun, Andreas, Deufel, Thomas, Geilenkeuser, Wolf-Jochen, Neumaier, Michael, Roscher, Adelbert, Röhle, Gerhard, Wagener, Christoph   +6 more
core   +1 more source

Sirolimus for Extracranial Arteriovenous Malformations: A Scoping Review of the Evidence in Syndromic and Non‐Syndromic Cases

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson, Ingrid Winship, Gary Hammerschlag, Laura Scardamaglia   +3 more
wiley   +1 more source

The Morphogenesis Of Evolutionary Developmental Biology [PDF]

, 2003
The early studies of evolutionary developmental biology (Evo-Devo) come from several sources. Tributaries flowing into Evo-Devo came from such disciplines as embryology, developmental genetics, evolutionary biology, ecology, paleontology, systematics ...
Gilbert, Scott F.
core   +2 more sources

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Identifying knowledge deficiencies in genetics education among medical students and interns in Saudi Arabia- A cross-sectional study

BMC Medical Education
Background Understanding genetics is crucial for medical students, particularly in Saudi Arabia, where genetic disorders are prevalent owing to high rates of consanguineous marriages.
Abeer F. Zakariyah, Sadin A. Alamri, Manal M. Alzahrani, Aseel A. Alamri, Muhammad A. Khan, Mehenaz A. Hanbazazh   +5 more
doaj   +1 more source

Rapid and inexpensive body fluid identification by RNA profiling-based multiplex High Resolution Melt (HRM) analysis [v2; ref status: indexed, http://f1000r.es/314]

F1000Research, 2014
Positive identification of the nature of biological material present on evidentiary items can be crucial for understanding the circumstances surrounding a crime.
Erin K. Hanson, Jack Ballantyne
doaj   +1 more source

Interview with Huda Zoghbi [PDF]

, 2016
An oral history interview with Dr. Huda Zoghbi about her career at Baylor College of Medicine in the Texas Medical Center. She worked as a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor ...
Zoghbi, Huda, MD
core   +1 more source