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Author/Creator Traboulsi, Elias I

3. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. Issue 10 (11th July 2013)

Authors:
Wang, Xia; Wang, Hui; Sun, Vincent; Tuan, Han-Fang; Keser, Vafa; Wang, Keqing; Ren, Huanan; Lopez, Irma; Zaneveld, Jacques E; Siddiqui, Sorath; Bowles, Stephanie; Khan, Ayesha; Salvo, Jason; Jacobson, Samuel G; Iannaccone, Alessandro; Wang, Feng; Birch, David; Heckenlively, John R; Fishman, Geral...
Journal:
Journal of medical genetics
Issue:
Volume 50:Issue 10(2013)
Page Start:
674
Record Type:
Journal Article
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4. Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8. Issue 3 (20th June 2018)

Authors:
Fujinami, Kaoru; Strauss, Rupert W; Chiang, John (Pei-Wen); Audo, Isabelle S; Bernstein, Paul S; Birch, David G; Bomotti, Samantha M; Cideciyan, Artur V; Ervin, Ann-Margret; Marino, Meghan J; Sahel, José-Alain; Mohand-Said, Saddek; Sunness, Janet S; Traboulsi, Elias I; West, Sheila; Wojciechowski...
Other Names:
author non-byline.; Scholl Hendrik PN author non-byline.; Strauss Rupert W author non-byline.; Wolfson Yulia author non-byline.; Bittencourt Millena author non-byline.; Shah Syed Mahmood author non-byline.; Ahmed Mohamed author non-byline.; Schönbach Etienne author non-byline.; Fujinami Kaoru au...
Journal:
British journal of ophthalmology
Issue:
Volume 103:Issue 3(2019)
Page Start:
390
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet–Biedl syndrome patient population. Issue 7 (14th May 2010)

Authors:
Billingsley, Gail; Bin, Jenea; Fieggen, Karen J; Duncan, Jacque L; Gerth, Christina; Ogata, Koji; Wodak, Shoshana S; Traboulsi, Elias I; Fishman, Gerald A; Paterson, Andrew; Chitayat, David; Knueppel, Tanja; Millán, José M; Mitchell, Grant A; Deveault, Catherine; Héon, Elise
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 7(2010)
Page Start:
453
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗