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Author/Creator Haug, Marte G.

1. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Issue 1 (13th September 2021)

Authors:
von der Lippe, Charlotte; Tveten, Kristian; Prescott, Trine E.; Holla, Øystein L.; Busk, Øyvind L.; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek; Jolles, Stephen; Evans, Jennifer; Osio, Deborah; Macmillan, Carol; Bruno, Irene; Faletra, Flavio; Climent, Sa...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 1(2022)
Page Start:
272
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. The intronic ABCA4 c.5461‐10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Issue 3 (24th October 2016)

Authors:
Aukrust, Ingvild; Jansson, Ragnhild W.; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte G.; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per M.
Journal:
Acta ophthalmologica
Issue:
Volume 95:Issue 3(2017)
Page Start:
240
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗