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Haack, T.B.
1544  Ergebnisse:
Personensuche X
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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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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13

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/..
 
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14

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, B.M. (Birgit M.) ; Mastantuono, E. (Elisa) ; Alston, C.L. (Charlotte L.)...
info:eu-repo/grantAgreement/EC/FP7/317433.  , 2018
Link: http://repub.eur.nl/pub/..
 
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15

An Empirical Evaluation of Turbulence Closure Models in the..:

Savelyev, I. B. ; Martin, P. J. ; Fan, Y....
Journal of Geophysical Research: Oceans.  127 (2022)  4 - p. , 2022
Link: https://doi.org/10.1029/..
 
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