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X Demographics
Mendeley readers
Attention Score in Context
| Chapter title |
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants
|
|---|---|
| Chapter number | 112 |
| Book title |
JIMD Reports, Volume 43
|
| Published in |
JIMD Reports, January 2018
|
| DOI | 10.1007/8904_2018_112 |
| Pubmed ID | |
| Book ISBNs |
978-3-66-258613-6, 978-3-66-258614-3
|
| Authors |
D. Quelhas, J. Jaeken, A. Fortuna, L. Azevedo, A. Bandeira, G. Matthijs, E. Martins, Quelhas, D., Jaeken, J., Fortuna, A., Azevedo, L., Bandeira, A., Matthijs, G., Martins, E. |
| Abstract |
This report is on two novel patients with RFT1-CDG. Their phenotype is characterized by mild psychomotor disability, behavioral problems, ataxia, and mild dysmorphism. Neither of them shows signs of epilepsy, which was observed in all RFT1-CDG patients reported to date (n = 14). Also, deafness, which is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G >gt; A (p.G276D), c.73C >gt; T (p.R25W), and c.208T >gt; C (p.C70R). |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 11 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 11 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 2 | 18% |
| Student > Ph. D. Student | 2 | 18% |
| Other | 2 | 18% |
| Researcher | 1 | 9% |
| Student > Bachelor | 1 | 9% |
| Other | 0 | 0% |
| Unknown | 3 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 36% |
| Medicine and Dentistry | 2 | 18% |
| Neuroscience | 1 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 9% |
| Unknown | 3 | 27% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 21 June 2018.
All research outputs
#20,522,137
of 23,090,520 outputs
Outputs from JIMD Reports
#499
of 558 outputs
Outputs of similar age
#378,477
of 442,634 outputs
Outputs of similar age from JIMD Reports
#20
of 22 outputs
Altmetric has tracked 23,090,520 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 558 research outputs from this source. They receive a mean Attention Score of 2.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 442,634 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 22 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.