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Author/Creator Collin, Rob W J

1. 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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Available online (eLD content is only available in our Reading Rooms) ↗

2. An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature. (1st August 2018)

Authors:
Karjosukarso, Dyah W; van Gestel, Sebastianus H C; Qu, Jieqiong; Kouwenhoven, Evelyn N; Duijkers, Lonneke; Garanto, Alejandro; Zhou, Huiqing; Collin, Rob W J
Journal:
Human molecular genetics
Issue:
Volume 27:Number 20(2018:Oct. 15)
Page Start:
3519
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Delivery of oligonucleotide‐based therapeutics: challenges and opportunities. Issue 4 (6th April 2021)

Authors:
Hammond, Suzan M; Aartsma‐Rus, Annemieke; Alves, Sandra; Borgos, Sven E; Buijsen, Ronald A M; Collin, Rob W J; Covello, Giuseppina; Denti, Michela A; Desviat, Lourdes R; Echevarría, Lucía; Foged, Camilla; Gaina, Gisela; Garanto, Alejandro; Goyenvalle, Aurelie T; Guzowska, Magdalena; Holodnuka, Ir...
Journal:
EMBO molecular medicine
Issue:
Volume 13:Issue 4(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗