Eva-Christina Prott

Affiliations

Private Practice for Human Genetics, Wuppertal, Germany.

Publications (4)

Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.

Human genetics

Avec: Lama AlAbdi , Teresa Neuhann , Eva-Christina Prott , Ulrike Schön , Firdous Abdulwahab , Eissa Faqeih , Fowzan S Alkuraya

Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.

Brain : a journal of neurology

Avec: Hannes Erdmann , Florentine Scharf , Stefanie Gehling , Anna Benet-Pagès , Sibylle Jakubiczka , Kerstin Becker , Maria Seipelt , Felix Kleefeld , Karl Christian Knop , Eva-Christina Prott , Miriam Hiebeler , Federica Montagnese , Dieter Gläser , Matthias Vorgerd , Tim Hagenacker , Maggie C Walter , Peter Reilich , Teresa Neuhann , Martin Zenker , Elke Holinski-Feder , Benedikt Schoser , Angela Abicht

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.

Journal of neuromuscular diseases

Avec: Stephanie Kleinle , Veronika Scholz , Anna Benet-Pagés , Tobias Wohlfrom , Stefanie Gehling , Florentine Scharf , Simone Rost , Eva-Christina Prott , Susanne Grinzinger , Anna Hotter , Verena Haug , Sabine Niemeier , Lucia Wiethoff-Ubrig , Tim Hagenacker , Klaus Goldhahn , Arpad von Moers , Maggie C Walter , Peter Reilich , Katja Eggermann , Florian Kraft , Ingo Kurth , Hannes Erdmann , Elke Holinski-Feder , Teresa Neuhann , Angela Abicht

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling.

Frontiers in neurology

Avec: Svea Horn , Teresa Neuhann , Corina Hennig , Angela Abad-Perez , Eva-Christina Prott , Lisa Cardellini , Cornelia Potratz , Jonas Leubner , Birgit Eichhorn , Martin Merkel , Angela Abicht , Angela M Kaindl

Réseau de co-auteurs

Teresa Neuhann 4 collaborations

Angela Abicht 3 collaborations

Hannes Erdmann 2 collaborations

Florentine Scharf 2 collaborations

Stefanie Gehling 2 collaborations

Tim Hagenacker 2 collaborations

Maggie C Walter 2 collaborations

Peter Reilich 2 collaborations

Elke Holinski-Feder 2 collaborations

Lama AlAbdi 1 collaboration

Ulrike Schön 1 collaboration

Firdous Abdulwahab 1 collaboration

Eissa Faqeih 1 collaboration

Fowzan S Alkuraya 1 collaboration

Anna Benet-Pagès 1 collaboration

Sibylle Jakubiczka 1 collaboration

Kerstin Becker 1 collaboration

Maria Seipelt 1 collaboration

Felix Kleefeld 1 collaboration

Karl Christian Knop 1 collaboration

Miriam Hiebeler 1 collaboration

Federica Montagnese 1 collaboration

Dieter Gläser 1 collaboration

Matthias Vorgerd 1 collaboration

Martin Zenker 1 collaboration

Benedikt Schoser 1 collaboration

Stephanie Kleinle 1 collaboration

Veronika Scholz 1 collaboration

Anna Benet-Pagés 1 collaboration

Tobias Wohlfrom 1 collaboration

Simone Rost 1 collaboration

Susanne Grinzinger 1 collaboration

Anna Hotter 1 collaboration

Verena Haug 1 collaboration

Sabine Niemeier 1 collaboration

Lucia Wiethoff-Ubrig 1 collaboration

Klaus Goldhahn 1 collaboration

Arpad von Moers 1 collaboration

Katja Eggermann 1 collaboration

Florian Kraft 1 collaboration

Ingo Kurth 1 collaboration

Svea Horn 1 collaboration

Corina Hennig 1 collaboration

Angela Abad-Perez 1 collaboration

Lisa Cardellini 1 collaboration

Cornelia Potratz 1 collaboration

Jonas Leubner 1 collaboration

Birgit Eichhorn 1 collaboration

Martin Merkel 1 collaboration

Angela M Kaindl 1 collaboration