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 |
2010 | 1 |
2017 | 2 |
2018 | 1 |
2023 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Page 1
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313.
J Clin Endocrinol Metab. 2017.
PMID: 27870580
Free PMC article.
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.
Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-López C, Alonso-Bernáldez M, Barraza-García J, Rodriguez-Zabala M, Lerario AM, Benito-Sanz S, Aza-Carmona M, Campos-Barros A, Jorge AAL, Heath KE.
Hisado-Oliva A, et al. Among authors: sentchordi l.
Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28.
Genet Med. 2018.
PMID: 28661490
Free article.
Item in Clipboard
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
Lecumberri B, Fernández-Rebollo E, Sentchordi L, Saavedra P, Bernal-Chico A, Pallardo LF, Bustos JM, Castaño L, de Santiago M, Hiort O, Pérez de Nanclares G, Bastepe M.
Lecumberri B, et al. Among authors: sentchordi l.
J Med Genet. 2010 Apr;47(4):276-80. doi: 10.1136/jmg.2009.071001. Epub 2009 Oct 26.
J Med Genet. 2010.
PMID: 19858129
Free PMC article.
Item in Clipboard
Cite
Cite