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Pregled bibliografske jedinice broj: 135231

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation


Burdon, K.P.; McKay, J.D.; Sale, M.M.; Russell-Eggitt, I.M.; Mackey, D.A.; Wirth, M.G.; Elder, J.E.; Nicoll, A.; Clarke, M.P.; FitzGerald, L.M. et al.
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation // American Journal of Human Genetics, 73 (2003), 1120-1130 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 135231 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation

Autori
Burdon, K.P. ; McKay, J.D. ; Sale, M.M. ; Russell-Eggitt, I.M. ; Mackey, D.A. ; Wirth, M.G. ; Elder, J.E. ; Nicoll, A. ; Clarke, M.P. ; FitzGerald, L.M. ; Stankovich, J.M. ; Shaw, M.A. ; Sharma, S. ; Gajović, Srećko ; Gruss, P. ; Ross, S. ; Thomas, P. ; Voss, A.K. ; Thomas, T. ; Gécz, J. ; Craig, J.E.

Izvornik
American Journal of Human Genetics (0002-9297) 73 (2003); 1120-1130

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Nance-Horan; cataract; mental retardation

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
0108402

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Srećko Gajović (autor)


Citiraj ovu publikaciju:

Burdon, K.P.; McKay, J.D.; Sale, M.M.; Russell-Eggitt, I.M.; Mackey, D.A.; Wirth, M.G.; Elder, J.E.; Nicoll, A.; Clarke, M.P.; FitzGerald, L.M. et al.
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation // American Journal of Human Genetics, 73 (2003), 1120-1130 (međunarodna recenzija, članak, znanstveni)
Burdon, K., McKay, J., Sale, M., Russell-Eggitt, I., Mackey, D., Wirth, M., Elder, J., Nicoll, A., Clarke, M. & FitzGerald, L. (2003) Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation. American Journal of Human Genetics, 73, 1120-1130.
@article{article, author = {Burdon, K.P. and McKay, J.D. and Sale, M.M. and Russell-Eggitt, I.M. and Mackey, D.A. and Wirth, M.G. and Elder, J.E. and Nicoll, A. and Clarke, M.P. and FitzGerald, L.M. and Stankovich, J.M. and Shaw, M.A. and Sharma, S. and Gajovi\'{c}, Sre\'{c}ko and Gruss, P. and Ross, S. and Thomas, P. and Voss, A.K. and Thomas, T. and G\'{e}cz, J. and Craig, J.E.}, year = {2003}, pages = {1120-1130}, keywords = {Nance-Horan, cataract, mental retardation}, journal = {American Journal of Human Genetics}, volume = {73}, issn = {0002-9297}, title = {Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation}, keyword = {Nance-Horan, cataract, mental retardation} }
@article{article, author = {Burdon, K.P. and McKay, J.D. and Sale, M.M. and Russell-Eggitt, I.M. and Mackey, D.A. and Wirth, M.G. and Elder, J.E. and Nicoll, A. and Clarke, M.P. and FitzGerald, L.M. and Stankovich, J.M. and Shaw, M.A. and Sharma, S. and Gajovi\'{c}, Sre\'{c}ko and Gruss, P. and Ross, S. and Thomas, P. and Voss, A.K. and Thomas, T. and G\'{e}cz, J. and Craig, J.E.}, year = {2003}, pages = {1120-1130}, keywords = {Nance-Horan, cataract, mental retardation}, journal = {American Journal of Human Genetics}, volume = {73}, issn = {0002-9297}, title = {Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation}, keyword = {Nance-Horan, cataract, mental retardation} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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