Hannah Stamberger

Sarah Weckhuysen 11 collaborations

Rikke S Møller 6 collaborations

Ingo Helbig 5 collaborations

None None 5 collaborations

Berten Ceulemans 5 collaborations

Sanjay M Sisodiya 4 collaborations

Elena Gardella 4 collaborations

Pasquale Striano 4 collaborations

David A Koolen 3 collaborations

Steffen Syrbe 3 collaborations

Federico Zara 3 collaborations

Boudewijn Gunning 3 collaborations

Gaetan Lesca 3 collaborations

Massimiliano Rossi 3 collaborations

Nienke Verbeek 3 collaborations

Renzo Guerrini 3 collaborations

An-Sofie Schoonjans 3 collaborations

Peter De Jonghe 3 collaborations

Mais O Hashem 2 collaborations

Boris Keren 2 collaborations

Eric W Klee 2 collaborations

Rolph Pfundt 2 collaborations

Fowzan S Alkuraya 2 collaborations

Jolien Roovers 2 collaborations

Candace T Myers 2 collaborations

J Helen Cross 2 collaborations

Alba Sanchis-Juan 2 collaborations

Anna Basu 2 collaborations

F Lucy Raymond 2 collaborations

Ganna Balagura 2 collaborations

Colin A Ellis 2 collaborations

David Lewis-Smith 2 collaborations

Francesca Furia 2 collaborations

Christian Korff 2 collaborations

Shekeeb S Mohammad 2 collaborations

Philipp S Reif 2 collaborations

Felix Rosenow 2 collaborations

Heather C Mefford 2 collaborations

Ingrid E Scheffer 2 collaborations

Claudia M Bonardi 2 collaborations

Martina Fiannacca 2 collaborations

Mark P Fitzgerald 2 collaborations

Kern Olofsson 2 collaborations

Caroline Nava 2 collaborations

Stephanie Baulac 2 collaborations

Antonietta Coppola 2 collaborations

Geneviève Demarquay 2 collaborations

Frauke Hornemann 2 collaborations

Guido Rubboli 2 collaborations

Tine Deconinck 2 collaborations

Carla Marini 2 collaborations

Holger Hengel 1 collaboration

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George Grady 1 collaboration

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Diego Martinelli 1 collaboration

Tal Gilboa 1 collaboration

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Moeenaldeen D AlSayed 1 collaboration

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Mohammed Al-Owain 1 collaboration

Ali Awaji 1 collaboration

Adel A H Mahmoud 1 collaboration

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Peter de Jonghe 1 collaboration

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Scott Demarest 1 collaboration

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Ayelet Zerem 1 collaboration

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Frank Kooy 1 collaboration

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Orly Elpeleg 1 collaboration

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Charles A Steward 1 collaboration

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Stephen Fitzgerald 1 collaboration

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Affiliations

Publications (12)

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

Assessing the landscape of STXBP1-related disorders in 534 individuals.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in

Treatment Responsiveness in KCNT1-Related Epilepsy.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Réseau de co-auteurs