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

Search Page

My NCBI Filters
Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 2
1988 1
1989 1
1990 3
1991 1
1992 2
1993 2
1994 6
1995 8
1996 4
1997 2
1998 3
1999 1
2000 2
2001 5
2002 3
2003 1
2004 3
2005 2
2006 1
2007 4
2008 6
2009 5
2010 8
2011 9
2012 9
2013 6
2014 6
2015 11
2016 9
2017 6
2018 3
2019 2
2020 1
2021 1
2022 0
Text availability
Article attribute
Article type
Publication date

Search Results

121 results
Results by year
Filters applied: . Clear all
Page 1
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: cobben jm. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Palmer EE, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers HH, Delgado MR, Sirsi D, Golla S, Sommer A, Pietryga MP, Chung WK, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux BM, Grange DK, Manwaring L, Tolmie J, Joss S; DDD Study, Cobben JM, Duijkers FAM, Goehringer JM, Challman TD, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh SP, Niu Z, Rosenfeld JA, Stankiewicz P, Jentsch TJ, Gecz J, Field M, Kalscheuer VM. Palmer EE, et al. Among authors: cobben jm. Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23. Mol Psychiatry. 2018. PMID: 27550844 Free PMC article.
Pectus excavatum and carinatum.
Cobben JM, Oostra RJ, van Dijk FS. Cobben JM, et al. Eur J Med Genet. 2014 Aug;57(8):414-7. doi: 10.1016/j.ejmg.2014.04.017. Epub 2014 May 10. Eur J Med Genet. 2014. PMID: 24821303 Review.
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878741 Review.
Down syndrome: a cardiovascular perspective.
Vis JC, Duffels MG, Winter MM, Weijerman ME, Cobben JM, Huisman SA, Mulder BJ. Vis JC, et al. Among authors: cobben jm. J Intellect Disabil Res. 2009 May;53(5):419-25. doi: 10.1111/j.1365-2788.2009.01158.x. Epub 2009 Feb 18. J Intellect Disabil Res. 2009. PMID: 19228275 Review.
[Osteogenesis imperfecta: clinical and genetic heterogeneity].
van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, Pals G. van Dijk FS, et al. Among authors: cobben jm. Ned Tijdschr Geneeskd. 2012;156(21):A4585. Ned Tijdschr Geneeskd. 2012. PMID: 22617071 Review. Dutch.
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J. Rabin R, et al. Among authors: cobben jm. Am J Med Genet A. 2020 Sep;182(9):2037-2048. doi: 10.1002/ajmg.a.61724. Epub 2020 Jul 24. Am J Med Genet A. 2020. PMID: 32710489
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: cobben jm. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
The EEC syndrome: a literature study.
Roelfsema NM, Cobben JM. Roelfsema NM, et al. Among authors: cobben jm. Clin Dysmorphol. 1996 Apr;5(2):115-27. doi: 10.1097/00019605-199604000-00003. Clin Dysmorphol. 1996. PMID: 8723561 Review.
121 results