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

137 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
The unfolding clinical spectrum of POLG mutations.
Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J, de Coo IF, Smeets HJ. Blok MJ, et al. Among authors: de coo if, de die smulders ce, de visser m. J Med Genet. 2009 Nov;46(11):776-85. doi: 10.1136/jmg.2009.067686. Epub 2009 Jul 2. J Med Genet. 2009. PMID: 19578034
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I. Ten Dam L, et al. Clin Genet. 2019 Aug;96(2):126-133. doi: 10.1111/cge.13544. Epub 2019 May 6. Clin Genet. 2019. PMID: 30919934
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
Speksnijder L, Cohen-Overbeek TE, Knapen MF, Lunshof SM, Hoogeboom AJ, van den Ouwenland AM, de Coo IF, Lequin MH, Bolz HJ, Bergmann C, Biesecker LG, Willems PJ, Wessels MW. Speksnijder L, et al. Among authors: de coo if. Am J Med Genet A. 2013 Jun;161A(6):1394-400. doi: 10.1002/ajmg.a.35874. Epub 2013 Apr 30. Am J Med Genet A. 2013. PMID: 23633388
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, Naess K, de Coo IFM, Nascimento Osorio A, Nuutinen M, Lindberg C, Bindoff LA, Tulinius M, Darin N, Sofou K. Parasyri M, et al. Among authors: de coo ifm. Kidney Dis (Basel). 2022 Jan 24;8(2):148-159. doi: 10.1159/000521148. eCollection 2022 Mar. Kidney Dis (Basel). 2022. PMID: 35527992 Free PMC article.
137 results