E-LIB Suche - Ergebnisse für: Haack, T.B.

1

Citrin deficiency mimicking mitochondrial depletion syndrom:

Grünert, S. C. ; Schumann, A. ; Freisinger, P....
BMC Pediatrics. 20 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

2

Expanding the phenotype of DNAJC3 mutations: A case with hy..:

Bublitz, S.K. ; Alhaddad, B. ; Synofzik, M....
Clinical Genetics. 92 (2017) 5 - p. 561-562 , 2017

Link: https://doi.org/10.1111/..

3

Hereditary spastic paraplegia caused by compound heterozygo..:

Krenn, M. ; Zulehner, G. ; Hotzy, C....
European Journal of Neurology. 24 (2017) 5 - p. 741-747 , 2017

Link: https://doi.org/10.1111/..

4

Epilepsy in patients with GRIN2A alterations: Genetics, neu..:

von Stülpnagel, C. ; Ensslen, M. ; Møller, R.S....
European Journal of Paediatric Neurology. 21 (2017) 3 - p. 530-541 , 2017

Link: https://doi.org/10.1016/..

5

Extension of the phenotype of biallelic loss‐of‐function mu..:

Braunisch, M.C. ; Gallwitz, H. ; Abicht, A....
Clinical Genetics. 93 (2017) 2 - p. 255-265 , 2017

Link: https://doi.org/10.1111/..

6

Novel GFM2 variants identified in two cases of early-onset ..:

Glasgow, R.I.C. ; Thompson, K. ; He, L....
Neuromuscular Disorders. 27 (2017) - p. S22 , 2017

Link: https://doi.org/10.1016/..

7

PP03.1 – 3059: Mutations in ECHS1: A defect in a multifunct..:

Freisinger, P. ; Haack, T.B. ; Kölker, S....
European Journal of Paediatric Neurology. 19 (2015) - p. S36 , 2015

Link: https://doi.org/10.1016/..

8

P149 – 2652: Neuroimaging findings in two common NBIA subty..:

Kmiec, T. ; Jurkiewicz, E. ; Nowak, K....
European Journal of Paediatric Neurology. 19 (2015) - p. S135 , 2015

Link: https://doi.org/10.1016/..

9

Sengers syndrome is caused by a deficiency of the acylglyce..:

Sperl, W. ; Mayr, J.A. ; Haack, T.B....
Mitochondrion. 13 (2013) 6 - p. 909 , 2013

Link: https://doi.org/10.1016/..

10

O.24 Loss of function of MGME1, a novel player in mitochond..:

Kornblum, C. ; Nicholls, T. ; Haack, T.B....
Neuromuscular Disorders. 23 (2013) 9-10 - p. 852 , 2013

Link: https://doi.org/10.1016/..

11

C19orf12 mutations in neurodegeneration with brain iron acc..:

Deschauer, M. ; Gaul, C. ; Behrmann, C....
Journal of Neurology. 259 (2012) 11 - p. 2434-2439 , 2012

Link: https://doi.org/10.1007/..

12

"Next generation sequencing": Neuer Zugang zur molekularen ..:

Hempel, M. ; Haack, T.B. ; Eck, S..
Monatsschrift Kinderheilkunde. 159 (2011) 9 - p. 827-833 , 2011

Link: https://doi.org/10.1007/..

13

Clinico-radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B ; Kaya, Namik...
Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan , A C , Santiago-Sim , T , Dameron , A , Yang , H , Toosi , M B , Ashrafzadeh , F , Akhondian , J , Imannezhad , S , Mirzadeh , H S , Maqbool , S , Farid , A , Al-Muhaizea , M A , Alshwameen , M O , Aldowsari , L , Alsagob , M , Alyousef , A , AlMass , R , AlHargan , A , Alwadei , A H , AlRasheed , M M , Colak , D , Alqudairy , H , Khan , S , Lines , M A , García Cazorla , M Á , Ribes , A , Morava , E , Bibi , F , Haider , S , Ferla , M P , Taylor , J C , Alsaif , H S , Firdous , A , Hashem , M , Shashkin , C , Koneev , K , Kaiyrzhanov , R , Efthymiou , S , Genomics , Q S , Schmitt-Mechelke , T , Zie.... , 2022

Link: https://pure.eur.nl/en/p..

14

Clinico-radiological features, molecular spectrum, and iden..:

Scala, M ; Wortmann, S.B ; Kaya, N...
Scala , M , Wortmann , S B , Kaya , N , Stellingwerff , M D , Pistorio , A , Glamuzina , E , van Karnebeek , C D , Skrypnyk , C , Iwanicka-Pronicka , K , Piekutowska-Abramczuk , D , Ciara , E , Tort , F , Sheidley , B , Poduri , A , Jayakar , P , Jayakar , A , Upadia , J , Walano , N , Haack , T B , Prokisch , H , Aldhalaan , H , Karimiani , E G , Yildiz , Y , Ceylan , A C , Santiago-Sim , T , Dameron , A , Yang , H , Toosi , M B , Ashrafzadeh , F , Akhondian , J , Imannezhad , S , Mirzadeh , H S , Maqbool , S , Farid , A , Al-Muhaizea , M A , Alshwameen , M O , Aldowsari , L , Alsagob , M , Alyousef , A , AlMass , R , AlHargan , A , Alwadei , A H , AlRasheed , M M , Colak , D , Alqudairy , H , Khan , S , Lines , M A , Cazorla , M A G , Ribes , A , Morava , E , Bierau , J , van der Knaap , M S , Maroofian , R & Houlden , H H 2022 , ' Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy.... , 2022

Link: https://cris.maastrichtu..

15

Defining the phenotypical spectrum associated with variants..:

Brock, S. (Stefanie) ; Vanderhasselt, T. (Tim) ; Vermaning, S. (Sietske)...
http://repub.eur.nl/pub/128184. , 2020

Link: http://repub.eur.nl/pub/..