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 |
---|---|
2009 | 1 |
2016 | 1 |
2021 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Int J Mol Sci. 2021 Nov 24;22(23):12713. doi: 10.3390/ijms222312713.
Int J Mol Sci. 2021.
PMID: 34884523
Free PMC article.
MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC.
San Antonio-Arce V, et al. Among authors: cotarelo perez mc.
Child Neurol Open. 2016 Apr 4;3:2329048X16630673. doi: 10.1177/2329048X16630673. eCollection 2016 Jan-Dec.
Child Neurol Open. 2016.
PMID: 28503606
Free PMC article.
Item in Clipboard
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
Fernández-Rebollo E, Pérez O, Martinez-Bouzas C, Cotarelo-Pérez MC, Garin I, Ruibal JL, Pérez-Nanclares G, Castaño L, de Nanclares GP.
Fernández-Rebollo E, et al. Among authors: cotarelo perez mc.
Eur J Endocrinol. 2009 Apr;160(4):711-7. doi: 10.1530/EJE-08-0865.
Eur J Endocrinol. 2009.
PMID: 19332529
Item in Clipboard
Cite
Cite