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Author/Creator Koenekoop, Robert K

1. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. Issue 7 (29th April 2014)

Authors:
Khateb, Samer; Zelinger, Lina; Mizrahi-Meissonnier, Liliana; Ayuso, Carmen; Koenekoop, Robert K; Laxer, Uri; Gross, Menachem; Banin, Eyal; Sharon, Dror
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 7(2014)
Page Start:
460
Record Type:
Journal Article
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2. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. Issue 7 (15th April 2014)

Authors:
Ajmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; Khan, Yar Muhammad; Azam, Maleeha; Waheed, Nadia Khalida; Hamel, Christian P; Ben-Yosef, Tamar; De Baere, Elfride; Koenekoop, Robert K; Collin, Rob W J; Qamar, Raheel; Cremers, Frans P M
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 7(2014)
Page Start:
444
Record Type:
Journal Article
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3. 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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4. 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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5. Development of a genotyping microarray for Usher syndrome. Issue 2 (8th September 2006)

Authors:
Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Web...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 2(2007)
Page Start:
153
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗