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

Year Number of Results
1999 1
2001 1
2002 4
2003 4
2004 4
2005 3
2006 7
2007 6
2008 10
2009 6
2010 8
2011 10
2012 8
2013 13
2014 11
2015 6
2016 5
2017 12
2018 6
2024 0

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108 results

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Page 1
Yunis-Varon syndrome: further delineation of the phenotype.
Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P. Basel-Vanagaite L, et al. Am J Med Genet A. 2008 Feb 15;146A(4):532-7. doi: 10.1002/ajmg.a.32135. Am J Med Genet A. 2008. PMID: 18203163 Review.
Homozygous truncating PTPRF mutation causes athelia.
Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Nürnberg G, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Nürnberg P, Foley J, Kubisch C, Basel-Vanagaite L. Borck G, et al. Among authors: basel vanagaite l. Hum Genet. 2014 Aug;133(8):1041-7. doi: 10.1007/s00439-014-1445-1. Epub 2014 Apr 30. Hum Genet. 2014. PMID: 24781087
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P, Revah-Politi A, Bassan H, Petrovski S, Bilancia CG, Ramsey K, Griffin NG, Bier L, Cho MT, Rosello M, Lynch SA, Colombo S, Weber A, Haug M, Heinzen EL, Sands TT, Narayanan V, Primiano M, Aggarwal VS, Millan F, Sattler-Holtrop SG, Caro-Llopis A, Pillar N, Baker J, Freedman R, Kroes HY, Sacharow S, Stong N, Lapunzina P, Schneider MC, Mendelsohn NJ, Singleton A, Loik Ramey V, Wou K, Kuzminsky A, Monfort S, Weiss M, Doyle S, Iglesias A, Martinez F, Mckenzie F, Orellana C, van Gassen KLI, Palomares M, Bazak L, Lee A, Bircher A, Basel-Vanagaite L, Hafström M, Houge G; C4RCD Research Group; DDD study; Goldstein DB, Anyane-Yeboa K. Hemati P, et al. Among authors: basel vanagaite l. Am J Med Genet A. 2018 Nov;176(11):2259-2275. doi: 10.1002/ajmg.a.40472. Epub 2018 Sep 8. Am J Med Genet A. 2018. PMID: 30194818 Review.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium; Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. Dyment DA, et al. Among authors: basel vanagaite l. Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27. Am J Hum Genet. 2013. PMID: 23810382 Free PMC article.
Keppen-Lubinsky syndrome: Expanding the phenotype.
Basel-Vanagaite L, Shaffer L, Chitayat D. Basel-Vanagaite L, et al. Am J Med Genet A. 2009 Aug;149A(8):1827-9. doi: 10.1002/ajmg.a.32975. Am J Med Genet A. 2009. PMID: 19610118 No abstract available.
Isolated familial posterior earlobe indentations.
Fischlowitz S, Merlob P, Basel-Vanagaite L. Fischlowitz S, et al. Among authors: basel vanagaite l. Am J Med Genet A. 2009 Feb 15;149A(4):800-1. doi: 10.1002/ajmg.a.32746. Am J Med Genet A. 2009. PMID: 19283852 No abstract available.
108 results