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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Lina Basel-Vanagaite

Raphael Recanati Genetics Institute

Rabin Medical Center

Beilinson Campus

Petah Tikva 49100

Israel

[email]@post.tau.ac.il

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva 49100, Israel. 2002 - 2012
  • The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, and Schneider Children's Medical Center of Israel, Israel;. 2011
  • Schneider Children's Medical Center of Israel, Raphael Recanati Genetics Institute, Beilinson Hospital, Petah Tikva, Israel. 2009 - 2010
  • Department of Medical Genetics, Israel. 2007 - 2008
  • Schneider Children's Medical Center of Israel, Israel. 2007

References

  1. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Basel-Vanagaite, L., Dallapiccola, B., Ramirez-Solis, R., Segref, A., Thiele, H., Edwards, A., Arends, M.J., Miró, X., White, J.K., Désir, J., Abramowicz, M., Dentici, M.L., Lepri, F., Hofmann, K., Har-Zahav, A., Ryder, E., Karp, N.A., Estabel, J., Gerdin, A.K., Podrini, C., Ingham, N.J., Altmüller, J., Nürnberg, G., Frommolt, P., Abdelhak, S., Pasmanik-Chor, M., Konen, O., Kelley, R.I., Shohat, M., Nürnberg, P., Flint, J., Steel, K.P., Hoppe, T., Kubisch, C., Adams, D.J., Borck, G. Am. J. Hum. Genet. (2012) [Pubmed]
  2. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Maydan, G., Noyman, I., Har-Zahav, A., Neriah, Z.B., Pasmanik-Chor, M., Yeheskel, A., Albin-Kaplanski, A., Maya, I., Magal, N., Birk, E., Simon, A.J., Halevy, A., Rechavi, G., Shohat, M., Straussberg, R., Basel-Vanagaite, L. J. Med. Genet. (2011) [Pubmed]
  3. Acute lymphoblastic leukemia in Weaver syndrome. Basel-Vanagaite, L. Am. J. Med. Genet. A (2010) [Pubmed]
  4. Keppen-Lubinsky syndrome: Expanding the phenotype. Basel-Vanagaite, L., Shaffer, L., Chitayat, D. Am. J. Med. Genet. A (2009) [Pubmed]
  5. Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. Basel-Vanagaite, L., Taub, E., Drasinover, V., Magal, N., Brudner, A., Zlotogora, J., Shohat, M. Genet. Test. (2008) [Pubmed]
  6. Yunis-Varon syndrome: further delineation of the phenotype. Basel-Vanagaite, L., Kornreich, L., Schiller, O., Yacobovich, J., Merlob, P. Am. J. Med. Genet. A (2008) [Pubmed]
  7. Clinical approaches to genetic mental retardation. Basel-Vanagaite, L. Isr. Med. Assoc. J. (2008) [Pubmed]
  8. Genetics of autosomal recessive non-syndromic mental retardation: recent advances. Basel-Vanagaite, L. Clin. Genet. (2007) [Pubmed]
  9. Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease. Basel-Vanagaite, L., Pelet, A., Steiner, Z., Munnich, A., Rozenbach, Y., Shohat, M., Lyonnet, S. Eur. J. Hum. Genet. (2007) [Pubmed]
  10. Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel. Basel-Vanagaite, L., Taub, E., Halpern, G.J., Drasinover, V., Magal, N., Davidov, B., Zlotogora, J., Shohat, M. Eur. J. Hum. Genet. (2007) [Pubmed]
  11. Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. Basel-Vanagaite, L., Attia, R., Ishida-Yamamoto, A., Rainshtein, L., Ben Amitai, D., Lurie, R., Pasmanik-Chor, M., Indelman, M., Zvulunov, A., Saban, S., Magal, N., Sprecher, E., Shohat, M. Am. J. Hum. Genet. (2007) [Pubmed]
  12. Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. Basel-Vanagaite, L., Rainshtein, L., Inbar, D., Gothelf, D., Hennekam, R., Straussberg, R. Am. J. Med. Genet. A (2007) [Pubmed]
  13. The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. Basel-Vanagaite, L., Attia, R., Yahav, M., Ferland, R.J., Anteki, L., Walsh, C.A., Olender, T., Straussberg, R., Magal, N., Taub, E., Drasinover, V., Alkelai, A., Bercovich, D., Rechavi, G., Simon, A.J., Shohat, M. J. Med. Genet. (2006) [Pubmed]
  14. Expanding the phenotypic spectrum of L1CAM-associated disease. Basel-Vanagaite, L., Straussberg, R., Friez, M.J., Inbar, D., Korenreich, L., Shohat, M., Schwartz, C.E. Clin. Genet. (2006) [Pubmed]
  15. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Basel-Vanagaite, L., Muncher, L., Straussberg, R., Pasmanik-Chor, M., Yahav, M., Rainshtein, L., Walsh, C.A., Magal, N., Taub, E., Drasinover, V., Shalev, H., Attia, R., Rechavi, G., Simon, A.J., Shohat, M. Ann. Neurol. (2006) [Pubmed]
  16. Amniotic trisomy 11 mosaicism--is it a benign finding?. Basel-Vanagaite, L., Davidov, B., Friedman, J., Yeshaya, Y., Magal, N., Drasinover, V., Shohat, M. Prenat. Diagn. (2006) [Pubmed]
  17. Infantile bilateral striatal necrosis maps to chromosome 19q. Basel-Vanagaite, L., Straussberg, R., Ovadia, H., Kaplan, A., Magal, N., Shorer, Z., Shalev, H., Walsh, C., Shohat, M. Neurology (2004) [Pubmed]
  18. New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death. Basel-Vanagaite, L., Marcus, N., Klinger, G., Shohat, M., Levit, O., Karmazin, B., Taub, E., Sirota, L. Am. J. Med. Genet. A (2003) [Pubmed]
  19. Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity. Basel-Vanagaite, L., Alkelai, A., Straussberg, R., Magal, N., Inbar, D., Mahajna, M., Shohat, M. J. Med. Genet. (2003) [Pubmed]
  20. Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?. Basel-Vanagaite, L., Shohat, M., Udler, Y., Karmazin, B., Levit, O., Merlob, P. Am. J. Med. Genet. (2002) [Pubmed]
 
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