Results 121 to 130 of about 7,643,641 (304)

Identification and prioritization of quality indicators in clinical genetics: An international survey

open access: yes, 2009
The range and demand for clinical genetic services will continue to grow, and now is an ideal time to assess current service quality. Based on the previous work of quality professional organizations such as the Institute of Medicine (IOM) and The Joint ...
Zellerino, BC   +4 more
core   +1 more source

Medical genetics [PDF]

open access: yesPostgraduate Medical Journal, 1991
openaire   +2 more sources

Medical genetics in clinical practice.

open access: yesSouth African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974
Two hundred and fifty-four patients were seen in the Genetic Clinics during 1973, the first full year of activity of the Department of Human Genetics, University of Cape Town. The current role of medical genetics in clinical practice is exemplified by an analysis and discussion of the problems presented by these individuals.S. Afr. Med.
Beighton, P.H., Nelson, Matilda M.
openaire   +3 more sources

Structural and biochemical analysis of a B12 superbinder

open access: yesFEBS Letters, EarlyView.
BtuG proteins are vitamin B12 scavengers in Bacteroides thetaiotaomicron, a dominant human gut bacterium. We present crystal structures of three BtuG homologs bound to cobalamin and its precursor cobinamide, revealing picomolar binding affinities, among the highest known for any natural protein.
Jose M. Martinez Felices   +3 more
wiley   +1 more source

VIEWS OF GROUP OF PHISICIANS, NURCES AND MIDWIVES ON ETHICAL PRINCIPLES IN MEDICAL GENETICS, IN TEHRAN

open access: yesIranian Journal of Public Health, 1999
In 1998 international guidelines on principles of ethics in medical genetics and genetic services was edited and provided by the World Health Organization.
D.D. Farhud   +2 more
doaj  

Genetic Diagnosis and Medical Genetics in Turkish Court of Cassation Decisions: A Cross-sectional Decision Analysis

open access: yesGazi Medical Journal
Objective: Advances in genetic and genomic technologies have expanded the clinical role of medical genetics and created complex legal, ethical, and social implications.
Dilsu Dicle Erkan, Elifcan Taşdelen
doaj   +1 more source

The Shewanella oneidensis Fic enzyme SoFic targets the switch‐I region of EF‐Tu for AMPylation

open access: yesFEBS Letters, EarlyView.
Fic enzymes mediate diverse post‐translational modifications across all domains of life, including AMPylation. Prokaryotic EF‐Tu can be AMPylated and deAMPylated by the conserved Fic enzyme SoFic. Structural and biochemical approaches were used to characterize the effect of AMPylation on EF‐Tu, SoFic's enzymatic activities, and the enzyme‐target ...
Svenja Runge   +6 more
wiley   +1 more source

Microdeletions and molecular genetics

open access: yes, 2004
Educational Items on Microdeletions and molecular ...
Fryns, JP, A Vogels, JP Fryns, Vogels, A
core   +1 more source

Basic concepts of medical genetics formal genetics, Part 3

open access: yesEgyptian Journal of Medical Human Genetics, 2014
Mohammad Saad Zaghloul Salem
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

open access: yesFEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise   +5 more
wiley   +1 more source

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