Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2019 | 1 |
2021 | 2 |
2022 | 1 |
2024 | 1 |
Search Results
6 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10.
Neurology. 2022.
PMID: 35012964
Free PMC article.
Motor, cognitive and behavioural outcomes after neonatal hypoxic-ischaemic encephalopathy.
Hortigüela MM, Martínez-Biarge M, Conejo D, Vega-Del-Val C, Arnaez J; Grupo ARAHIP.
Hortigüela MM, et al. Among authors: conejo d.
An Pediatr (Engl Ed). 2024 Feb;100(2):104-114. doi: 10.1016/j.anpede.2024.01.009. Epub 2024 Feb 7.
An Pediatr (Engl Ed). 2024.
PMID: 38331678
Free article.
Item in Clipboard
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group.
Vidal S, et al.
Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3.
Sci Rep. 2017.
PMID: 28947817
Free PMC article.
Item in Clipboard
CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings.
Martínez-Monseny AF, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell L, Muchart J, Carrera L, Ortez CI, Nascimento A, Oliva B, Fernández-Fernández JM, Serrano M.
Martínez-Monseny AF, et al. Among authors: conejo d.
Int J Mol Sci. 2021 May 13;22(10):5180. doi: 10.3390/ijms22105180.
Int J Mol Sci. 2021.
PMID: 34068417
Free PMC article.
Item in Clipboard
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group.
Vidal S, et al.
Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y.
Sci Rep. 2021.
PMID: 34493777
Free PMC article.
No abstract available.
Item in Clipboard
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.
Xiol C, Vidal S, Pascual-Alonso A, Blasco L, Brandi N, Pacheco P, Gerotina E, O'Callaghan M, Pineda M, Armstrong J; Rett Working Group.
Xiol C, et al.
Sci Rep. 2019 Aug 19;9(1):11983. doi: 10.1038/s41598-019-48385-w.
Sci Rep. 2019.
PMID: 31427717
Free PMC article.
Item in Clipboard
Cite
Cite