Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

34 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Muenke syndrome with osteochondroma.
Barbosa M, Almeida Mdo R, Reis-Lima M, Pinto-Basto J, dos Santos HG. Barbosa M, et al. Am J Med Genet A. 2009 Feb;149A(2):260-1. doi: 10.1002/ajmg.a.32616. Am J Med Genet A. 2009. PMID: 19097163 No abstract available.
Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.
Conceição Pereira M, Loureiro JL, Pinto-Basto J, Brandão E, Margarida Lopes A, Neves G, Dias P, Geraldes R, Martins IP, Cruz VT, Kamsteeg EJ, Brunner HG, Coutinho P, Sequeiros J, Alonso I. Conceição Pereira M, et al. Genet Med. 2012 Jan;14(1):143-51. doi: 10.1038/gim.2011.7. Genet Med. 2012. PMID: 22237444
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.
Scope of definitions of genetic testing: evidence from a EuroGentest survey.
Pinto-Basto J, Guimarães B, Rantanen E, Javaher P, Nippert I, Cassiman JJ, Kääriäinen H, Kristoffersson U, Schmidtke J, Sequeiros J. Pinto-Basto J, et al. J Community Genet. 2010 Mar;1(1):29-35. doi: 10.1007/s12687-010-0004-2. Epub 2010 Mar 16. J Community Genet. 2010. PMID: 22422358 Free PMC article.
34 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page