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Stamberger, Hannah
87  Ergebnisse:
Personensuche X
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1

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, Hannah ; Crosiers, David ; Balagura, Ganna...
Neurology.  99 (2022)  3 - p. , 2022
Link: https://doi.org/10.1212/..
 
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2

Functional and clinical studies reveal pathophysiological c..:

Palmer, Elizabeth E. ; Pusch, Michael ; Picollo, Alessandra...
Molecular Psychiatry.  28 (2022)  2 - p. 668-697 , 2022
Link: https://doi.org/10.1038/..
 
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3

RHOBTB2Mutations Expand the Phenotypic Spectrum of Alternat..:

Zagaglia, Sara ; Steel, Dora ; Krithika, S....
Neurology.  96 (2021)  11 - p. , 2021
Link: https://doi.org/10.1212/..
 
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4

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, Hannah ; Hammer, Trine B. ; Gardella, Elena...
Genetics in Medicine.  23 (2021)  2 - p. 363-373 , 2021
Link: https://doi.org/10.1038/..
 
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5

De novo FZR1 loss-of-function variants cause developmental ..:

Manivannan, Sathiya N ; Roovers, Jolien ; Smal, Noor...
Brain.  145 (2021)  5 - p. 1684-1697 , 2021
Link: https://doi.org/10.1093/..
 
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6

KCNT1-related epilepsies and epileptic encephalopathies: ph..:

Bonardi, Claudia M ; Heyne, Henrike O ; Fiannacca, Martina...
Brain.  144 (2021)  12 - p. 3635-3650 , 2021
Link: https://doi.org/10.1093/..
 
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7

Treatment Responsiveness in KCNT1-Related Epilepsy:

Fitzgerald, Mark P. ; Fiannacca, Martina ; Smith, Douglas M....
Neurotherapeutics.  16 (2019)  3 - p. 848-857 , 2019
Link: https://doi.org/10.1007/..
 
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8

Diagnostic implications of genetic copy number variation in..:

Coppola, Antonietta ; Cellini, Elena ; Stamberger, Hannah...
Epilepsia.  60 (2019)  4 - p. 689-706 , 2019
Link: https://doi.org/10.1111/..
 
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9

Re-annotation of 191 developmental and epileptic encephalop..:

Steward, Charles A. ; Roovers, Jolien ; Suner, Marie-Marthe...
npj Genomic Medicine.  4 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

Biallelic VARS variants cause developmental encephalopathy ..:

Siekierska, Aleksandra ; Stamberger, Hannah ; Deconinck, Tine...
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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11

De novo variants in neurodevelopmental disorders with epile..:

EuroEPINOMICS RES Consortium ; Heyne, Henrike O. ; Singh, Tarjinder...
Nature Genetics.  50 (2018)  7 - p. 1048-1053 , 2018
Link: https://doi.org/10.1038/..
 
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12

Delineating SPTAN1 associated phenotypes: from isolated epi..:

Syrbe, Steffen ; Harms, Frederike L ; Parrini, Elena...
Brain.  140 (2017)  9 - p. 2322-2336 , 2017
Link: https://doi.org/10.1093/..
 
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13

STXBP1encephalopathy: A neurodevelopmental disorder includi..:

Stamberger, Hannah ; Nikanorova, Marina ; Willemsen, Marjolein H....
Neurology.  86 (2016)  10 - p. 954-962 , 2016
Link: https://doi.org/10.1212/..
 
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14

Targeted sequencing of 351 candidate genes for epileptic en..:

de Kovel, Carolien G.F. ; Brilstra, Eva H. ; van Kempen, Marjan J.A....
Molecular Genetics & Genomic Medicine.  4 (2016)  5 - p. 568-580 , 2016
Link: https://doi.org/10.1002/..
 
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15

Loss of function of the retinoid-related nuclear receptor (..:

Rudolf, Gabrielle ; Lesca, Gaetan ; Mehrjouy, Mana M...
European Journal of Human Genetics.  24 (2016)  12 - p. 1761-1770 , 2016
Link: https://doi.org/10.1038/..
 
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