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Author/Creator Haack, T.B.

1. Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs. (May 2017)

Authors:
von Stülpnagel, C.; Ensslen, M.; Møller, R.S.; Pal, D.K.; Masnada, S.; Veggiotti, P.; Piazza, E.; Dreesmann, M.; Hartlieb, T.; Herberhold, T.; Hughes, E.; Koch, M.; Kutzer, C.; Hoertnagel, K.; Nitanda, J.; Pohl, M.; Rostásy, K.; Haack, T.B.; Stöhr, K.; Kluger, G.
Journal:
European journal of paediatric neurology
Issue:
Volume 21:Number 3(2017:May)
Page Start:
530
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Issue 5 (21st September 2017)

Authors:
Bublitz, S.K.; Alhaddad, B.; Synofzik, M.; Kuhl, V.; Lindner, A.; Freiberg, C.; Schmidt, H.; Strom, T.M.; Haack, T.B.; Deschauer, M.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 5(2017)
Page Start:
561
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Issue 2 (8th November 2017)

Authors:
Braunisch, M.C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski‐Feder, E.; Van Maldergem, L.; Lammens, M.; Kovács‐Nagy, R.; Alhaddad, B.; Strom, T.M.; Meitinger, T.; Senderek, J.; Rudnik‐Schöneborn, S.; Haack, T.B.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 2(2018)
Page Start:
255
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗