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Hannah Stamberger

Showing results (11-20 of 26) with videos related to

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Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
NPJ Genomic Medicine|December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.
Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
Nature Communications|February 14, 2019
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishAleksandra Siekierska, Hannah Stamberger, Tine Deconinck, et al.
NPJ Genomic Medicine|December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.
Neurology|July 19, 2022
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into AdulthoodHannah Stamberger, David Crosiers, Ganna Balagura, et al.
Epilepsia|March 14, 2019
Diagnostic implications of genetic copy number variation in epilepsy plusAntonietta Coppola, Elena Cellini, Hannah Stamberger, et al.
European Journal of Human Genetics : EJHG|June 30, 2016
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsyGabrielle Rudolf, Gaetan Lesca, Mana M Mehrjouy, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Brain : a Journal of Neurology|June 11, 2021
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrumClaudia M Bonardi, Henrike O Heyne, Martina Fiannacca, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Pageof 3