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Author/Creator Lopez, Irma

1. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. Issue 9 (23rd August 2011)

Authors:
Majewski, Jacek; Wang, Zibo; Lopez, Irma; Al Humaid, Sulaiman; Ren, Huanan; Racine, Julie; Bazinet, Alex; Mitchel, Grant; Braverman, Nancy; Koenekoop, Robert K
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 9(2011)
Page Start:
593
Record Type:
Journal Article
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2. 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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3. Novel insights into the molecular pathogenesis of CYP4V2‐associated Bietti's retinal dystrophy. Issue 1 (15th September 2014)

Authors:
Astuti, Galuh D. N.; Sun, Vincent; Bauwens, Miriam; Zobor, Ditta; Leroy, Bart P.; Omar, Amer; Jurklies, Bernhard; Lopez, Irma; Ren, Huanan; Yazar, Volkan; Hamel, Christian; Kellner, Ulrich; Wissinger, Bernd; Kohl, Susanne; De Baere, Elfride; Collin, Rob W. J.; Koenekoop, Robert K.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 1(2015:Jan.)
Page Start:
14
Record Type:
Journal Article
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4. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 1 (30th October 2013)

Authors:
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, [Sten; de, Elfride; Benn...
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
150
Record Type:
Journal Article
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5. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013)

Authors:
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de, Elfride; Benne...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1537
Record Type:
Journal Article
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6. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations. Issue 11 (17th September 2013)

Authors:
Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Andreasson, Sten; de Baere, Elf...
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1537
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗