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Author/Creator Moog, U.

1. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Issue 4 (27th November 2015)

Authors:
Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.
Journal:
Clinical genetics
Issue:
Volume 89:Issue 4(2016)
Page Start:
501
Record Type:
Journal Article
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2. Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. Issue 5 (October 2015)

Authors:
Granzow, M.; Paramasivam, N.; Hinderhofer, K.; Fischer, C.; Chotewutmontri, S.; Kaufmann, L.; Evers, C.; Kotzaeridou, U.; Rohrschneider, K.; Schlesner, M.; Sturm, M.; Pinkert, S.; Eils, R.; Bartram, C.R.; Bauer, P.; Moog, U.
Journal:
Molecular and cellular probes
Issue:
Volume 29:Issue 5(2015)
Page Start:
323
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. At first sight or second glance: clinical presentation of mosaic manifestations of autosomal dominant skin disorders – a case series. (10th April 2017)

Authors:
Toberer, F.; Happle, R.; Schneiderbauer, R.; Hausser, I.; Kröhl, V.; Epple, A.; Moog, U.; Enk, A.H.; Lonsdorf, A.S.
Journal:
Journal of the European Academy of Dermatology and Venereology
Issue:
Volume 31:Number 11(2017)
Page Start:
1912
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗