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

177 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Chetaille P, et al. Among authors: labuda d. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282101
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Capo-Chichi JM, et al. Among authors: labuda d. J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3. J Med Genet. 2015. PMID: 25650066
Parental genotypes in the risk of a complex disease.
Labuda D, Krajinovic M, Sabbagh A, Infante-Rivard C, Sinnett D. Labuda D, et al. Am J Hum Genet. 2002 Jul;71(1):193-7. doi: 10.1086/341345. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058344 Free PMC article.
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B; FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL. Srour M, et al. Among authors: labuda d. J Med Genet. 2012 Oct;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132. Epub 2012 Sep 25. J Med Genet. 2012. PMID: 23012439
[Founder effects and genetic variability in Quebec].
Moreau C, Vézina H, Labuda D. Moreau C, et al. Among authors: labuda d. Med Sci (Paris). 2007 Nov;23(11):1008-13. doi: 10.1051/medsci/200723111008. Med Sci (Paris). 2007. PMID: 18021716 French.
177 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page