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
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235.
J Clin Invest. 2024.
PMID: 37962958
Free PMC article.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.
Demaerel W, et al.
Am J Hum Genet. 2017 Oct 5;101(4):616-622. doi: 10.1016/j.ajhg.2017.09.002. Epub 2017 Sep 28.
Am J Hum Genet. 2017.
PMID: 28965848
Free PMC article.
Retracted.
Item in Clipboard
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR; International 22q11.2 Brain and Behavior Consortium.
Demaerel W, et al.
Am J Hum Genet. 2018 Sep 6;103(3):457. doi: 10.1016/j.ajhg.2018.08.011.
Am J Hum Genet. 2018.
PMID: 30193139
Free PMC article.
No abstract available.
Item in Clipboard
Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy.
Menéndez Suso JJ, Del Cerro Marín MJ, Dorao Martínez-Romillo P, Labrandero de Lera C, Fernández García-Moya L, Rodríguez González JI.
Menéndez Suso JJ, et al. Among authors: fernandez garcia moya l.
J Pediatr. 2012 Sep;161(3):557-9. doi: 10.1016/j.jpeds.2012.04.044. Epub 2012 Jun 1.
J Pediatr. 2012.
PMID: 22658788
Item in Clipboard
[Holt-Oram syndrome: characterization of a novel mutation].
Fernández García-Moya L, Lapunzina Badía P, Delicado Navarro A, Sharif A, Cross G, Mori Alvarez MA, de Torres Perezhidalgo ML, Palomares Bralo M, García Sánchez P, García-Guereta Silva L, López Pajares I.
Fernández García-Moya L, et al.
An Pediatr (Barc). 2006 Jun;64(6):578-82. doi: 10.1157/13089924.
An Pediatr (Barc). 2006.
PMID: 16792966
Free article.
Spanish.
Item in Clipboard
Cite
Cite