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Author/Creator Begtrup, A.

1. Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. Issue 6 (30th January 2017)

Authors:
Vivero, M.; Cho, M.T.; Begtrup, A.; Wentzensen, I.M.; Walsh, L.; Payne, K.; Zarate, Y.A.; Bosanko, K.; Schaefer, G.B.; DeBrosse, S.; Pollack, L.; Mason, K.; Retterer, K.; DeWard, S.; Juusola, J.; Chung, W.K.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 6(2017)
Page Start:
929
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Issue 5 (29th September 2016)

Authors:
Webster, R.; Cho, M.T.; Retterer, K.; Millan, F.; Nowak, C.; Douglas, J.; Ahmad, A.; Raymond, G.V.; Johnson, M.R.; Pujol, A.; Begtrup, A.; McKnight, D.; Devinsky, O.; Chung, W.K.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 5(2017)
Page Start:
756
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018)

Authors:
van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1000
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Issue 5 (25th January 2018)

Authors:
Powis, Z.; Petrik, I.; Cohen, J.S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C.M.A.; Sival, D.A.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Chikarmane, R.; Begtrup, A.; Huether, R.; Tang, S.; Shinde, D.N.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1030
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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