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 |
---|---|
2011 | 2 |
2014 | 3 |
2015 | 1 |
2020 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
7 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
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.
Am J Med Genet A. 2020 Oct;182(10):2222-2225. doi: 10.1002/ajmg.a.61778. Epub 2020 Aug 18.
Am J Med Genet A. 2020.
PMID: 32808430
No abstract available.
Chromosomal Microarray in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.
Sandoval-Talamantes AK, Mori MÁ, Santos-Simarro F, García-Miñaur S, Mansilla E, Tenorio JA, Peña C, Adan C, Fernández-Elvira M, Rueda I, Lapunzina P, Nevado J.
Sandoval-Talamantes AK, et al. Among authors: rueda i.
Genes (Basel). 2023 Mar 29;14(4):820. doi: 10.3390/genes14040820.
Genes (Basel). 2023.
PMID: 37107578
Free PMC article.
Item in Clipboard
[C5-carnitine false positive results in newborn screening: what is the cause?].
Yahyaoui R, Rueda I, Dayaldasani A, Boemer F.
Yahyaoui R, et al. Among authors: rueda i.
Med Clin (Barc). 2015 Feb 20;144(4):181-2. doi: 10.1016/j.medcli.2014.03.011. Epub 2014 Jun 2.
Med Clin (Barc). 2015.
PMID: 24889749
Spanish.
No abstract available.
Item in Clipboard
Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.
Rocha H, Castiñeiras D, Delgado C, Egea J, Yahyaoui R, González Y, Conde M, González I, Rueda I, Rello L, Vilarinho L, Cocho J.
Rocha H, et al. Among authors: rueda i.
JIMD Rep. 2014;16:89-94. doi: 10.1007/8904_2014_324. Epub 2014 Jul 11.
JIMD Rep. 2014.
PMID: 25012579
Free PMC article.
Item in Clipboard
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.
Yahyaoui R, Espinosa MG, Gómez C, Dayaldasani A, Rueda I, Roldán A, Ugarte M, Lastra G, Pérez V.
Yahyaoui R, et al. Among authors: rueda i.
Mol Genet Metab. 2011 Nov;104(3):414-6. doi: 10.1016/j.ymgme.2011.05.003. Epub 2011 May 12.
Mol Genet Metab. 2011.
PMID: 21641254
Item in Clipboard
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J,…
See abstract for full author list ➔
McHugh D, et al. Among authors: rueda i.
Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.
Genet Med. 2011.
PMID: 21325949
Free article.
Item in Clipboard
Serum vitamin B12 levels during the first trimester of pregnancy correlate with newborn screening markers of vitamin B12 deficiency.
Dayaldasani A, Ruiz-Escalera J, Rodríguez-Espinosa M, Rueda I, Pérez-Valero V, Yahyaoui R.
Dayaldasani A, et al. Among authors: rueda i.
Int J Vitam Nutr Res. 2014;84(1-2):92-7. doi: 10.1024/0300-9831/a000196.
Int J Vitam Nutr Res. 2014.
PMID: 25835239
Item in Clipboard
Cite
Cite