Researcher
Theresa Brunet
Klinikum rechts der Isar der Technischen Universität München
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9 papers found
All papers authored by Theresa Brunet
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2023
Frédéric Ebstein 
,
Sébastien Küry ,
Victoria Most ,
Cory Rosenfelt ,
Marie-Pier Scott-Boyer,
Geeske M. van Woerden ,
Thomas Besnard ,
Jonas Johannes Papendorf,
Maja Studencka-Turski ,
Tianyun Wang ,
Tzung-Chien Hsieh ,
Richard Golnik ,
Dustin Baldridge ,
Cara Forster,
Charlotte de Konink
and 59 other authors
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,
Sébastien Küry ,
Victoria Most ,
Cory Rosenfelt ,
Marie-Pier Scott-Boyer,
Geeske M. van Woerden ,
Thomas Besnard ,
Jonas Johannes Papendorf,
Maja Studencka-Turski ,
Tianyun Wang ,
Tzung-Chien Hsieh ,
Richard Golnik ,
Dustin Baldridge ,
Cara Forster,
Charlotte de Konink
and 59 other authors
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2022
Theresa Brunet ,
Riccardo Berutti,
Veronika Dill ,
Judith S. Hecker,
Daniela Choukair,
Stephanie Andres,
Marcus Deschauer,
Janine Diehl-Schmid,
Martin Krenn,
Gertrud Eckstein,
Elisabeth Graf,
Thomas Gasser,
Tim M. Strom,
Julia Hoefele,
Katharina S. Götze
and 2 other authors
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,
Riccardo Berutti,
Veronika Dill ,
Judith S. Hecker,
Daniela Choukair,
Stephanie Andres,
Marcus Deschauer,
Janine Diehl-Schmid,
Martin Krenn,
Gertrud Eckstein,
Elisabeth Graf,
Thomas Gasser,
Tim M. Strom,
Julia Hoefele,
Katharina S. Götze
and 2 other authors
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Tzung-Chien Hsieh ,
Aviram Bar-Haim ,
Shahida Moosa ,
Nadja Ehmke,
Karen W. Gripp,
Jean Tori Pantel ,
Magdalena Danyel,
Martin Atta Mensah,
Denise Horn,
Stanislav Rosnev ,
Nicole Fleischer,
Guilherme Bonini,
Alexander Hustinx,
Alexander Schmid,
Alexej Knaus
and 32 other authors
,
Aviram Bar-Haim ,
Shahida Moosa ,
Nadja Ehmke,
Karen W. Gripp,
Jean Tori Pantel ,
Magdalena Danyel,
Martin Atta Mensah,
Denise Horn,
Stanislav Rosnev ,
Nicole Fleischer,
Guilherme Bonini,
Alexander Hustinx,
Alexander Schmid,
Alexej Knaus
and 32 other authors
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
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2021
Matias Wagner,
Georg Lorenz,
Alexander E. Volk,
Dieter Edbauer,
Chen Zhao,
Adrian Danek,
Marcus Deschauer,
Veronika Dill,
Klaus Fassbender,
Klaus Fliessbach,
Katharina S. Götze,
Holger Jahn,
Johannes Kornhuber,
Bernhard Landwehrmeyer,
Martin Lauer
and 18 other authors
Clinico-genetic findings in 509 frontotemporal dementia patients.
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Dong Li ,
Qin Wang,
Naihua N. Gong ,
Alina Kurolap ,
Hagit Baris Feldman ,
Nikolas Boy ,
Melanie Brugger ,
Katheryn Grand ,
Kirsty McWalter ,
Maria J. Guillen Sacoto ,
Emma Wakeling ,
Jane Hurst,
Michael E. March ,
Elizabeth J. Bhoj ,
Małgorzata J. M. Nowaczyk
and 23 other authors
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,
Qin Wang,
Naihua N. Gong ,
Alina Kurolap ,
Hagit Baris Feldman ,
Nikolas Boy ,
Melanie Brugger ,
Katheryn Grand ,
Kirsty McWalter ,
Maria J. Guillen Sacoto ,
Emma Wakeling ,
Jane Hurst,
Michael E. March ,
Elizabeth J. Bhoj ,
Małgorzata J. M. Nowaczyk
and 23 other authors
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Theresa Brunet ,
Robert Jech,
Melanie Brugger,
Reka Kovacs,
Bader Alhaddad,
Gloria Leszinski ,
Korbinian M. Riedhammer,
Dominik S. Westphal ,
Isabella Mahle,
Katharina Mayerhanser,
Matej Skorvanek,
Sandrina Weber,
Elisabeth Graf,
Riccardo Berutti,
Ján Necpál
and 19 other authors
,
Robert Jech,
Melanie Brugger,
Reka Kovacs,
Bader Alhaddad,
Gloria Leszinski ,
Korbinian M. Riedhammer,
Dominik S. Westphal ,
Isabella Mahle,
Katharina Mayerhanser,
Matej Skorvanek,
Sandrina Weber,
Elisabeth Graf,
Riccardo Berutti,
Ján Necpál
and 19 other authors
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
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2020
Melanie Brugger ,
Fiona Becker‐Dettling,
Theresa Brunet ,
Tim Strom,
Thomas Meitinger,
Eberhard Lurz,
Ingo Borggraefe,
Matias Wagner
,
Fiona Becker‐Dettling,
Theresa Brunet ,
Tim Strom,
Thomas Meitinger,
Eberhard Lurz,
Ingo Borggraefe,
Matias Wagner
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy
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Theresa Brunet ,
Kirsty McWalter,
Katharina Mayerhanser,
Grace M. Anbouba,
Amy Armstrong-Javors,
Ingrid Bader,
Evan Baugh,
Amber Begtrup,
Caleb P. Bupp,
Bert L. Callewaert,
Anna Cereda,
Margot A. Cousin,
Juan C. Del Rey Jimenez,
Juan C. Del Rey Jimenez,
Laurie Demmer
and 47 other authors
,
Kirsty McWalter,
Katharina Mayerhanser,
Grace M. Anbouba,
Amy Armstrong-Javors,
Ingrid Bader,
Evan Baugh,
Amber Begtrup,
Caleb P. Bupp,
Bert L. Callewaert,
Anna Cereda,
Margot A. Cousin,
Juan C. Del Rey Jimenez,
Juan C. Del Rey Jimenez,
Laurie Demmer
and 47 other authors
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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