All papers authored by Ariane Schmetz
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2023
Ariane Schmetz 
,
Hermann-Josef Lüdecke,
Harald Surowy,
Sugirtahn Sivalingam,
Ange-Line Bruel,
Roseline Caumes,
Perrine Charles,
Nicolas Chatron,
Krystyna Chrzanowska,
Marta Codina-Solà,
Cindy Colson,
Ivon Cuscó,
Anne-Sophie Denommé-Pichon,
Patrick Edery,
Laurence Faivre
and 35 other authors
,
Hermann-Josef Lüdecke,
Harald Surowy,
Sugirtahn Sivalingam,
Ange-Line Bruel,
Roseline Caumes,
Perrine Charles,
Nicolas Chatron,
Krystyna Chrzanowska,
Marta Codina-Solà,
Cindy Colson,
Ivon Cuscó,
Anne-Sophie Denommé-Pichon,
Patrick Edery,
Laurence Faivre
and 35 other authors
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
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Mio Aerden ,
Anne-Sophie Denommé-Pichon ,
Dominique Bonneau,
Ange-Line Bruel ,
Julian Delanne,
Bénédicte Gérard,
Benoît Mazel ,
Christophe Philippe ,
Lucile Pinson,
Clément Prouteau,
Audrey Putoux,
Frédéric Tran Mau-Them ,
Éléonore Viora-Dupont ,
Antonio Vitobello ,
Alban Ziegler
and 43 other authors
,
Anne-Sophie Denommé-Pichon ,
Dominique Bonneau,
Ange-Line Bruel ,
Julian Delanne,
Bénédicte Gérard,
Benoît Mazel ,
Christophe Philippe ,
Lucile Pinson,
Clément Prouteau,
Audrey Putoux,
Frédéric Tran Mau-Them ,
Éléonore Viora-Dupont ,
Antonio Vitobello ,
Alban Ziegler
and 43 other authors
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
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Antje Kampmeier,
Elsa Leitão,
Ilaria Parenti ,
Jasmin Beygo,
Christel Depienne,
Nuria C. Bramswig,
Tzung-Chien Hsieh,
Alexandra Afenjar,
Stefanie Beck-Wödl,
Ute Grasshoff,
Tobias B. Haack,
Emilia K. Bijlsma,
Claudia Ruivenkamp,
Eva Lausberg,
Miriam Elbracht
and 22 other authors
,
Jasmin Beygo,
Christel Depienne,
Nuria C. Bramswig,
Tzung-Chien Hsieh,
Alexandra Afenjar,
Stefanie Beck-Wödl,
Ute Grasshoff,
Tobias B. Haack,
Emilia K. Bijlsma,
Claudia Ruivenkamp,
Eva Lausberg,
Miriam Elbracht
and 22 other authors
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
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2022
Ariane Schmetz ,
Xing Xiong,
Nicole Cesarato,
Fitnat Buket Basmanav,
Petra Gierthmuehlen,
Jörg Schaper,
Daniel Schlieper,
Maria Wehner,
Holger Thiele,
Jorge Frank,
Regina C. Betz,
Silke Redler
,
Xing Xiong,
Nicole Cesarato,
Fitnat Buket Basmanav,
Petra Gierthmuehlen,
Jörg Schaper,
Daniel Schlieper,
Maria Wehner,
Holger Thiele,
Jorge Frank,
Regina C. Betz,
Silke Redler
Phenotype diversity associated with TP63 mutations
Download from onlinelibrary.wiley.com
Karolin Bucksch ,
M. von Knebel Doeberitz,
Silke Zachariae,
Aysel Ahadova,
Stefan Aretz,
Reinhard Büttner,
Heike Görgens,
Robert Hüneburg,
Magnus Knebel Doeberitz,
Magnus Knebel Doeberitz,
Matthias Kloor,
Gabriela Moeslein,
Monika Morak,
E. Holinski Feder,
Jacob Nattermann
and 12 other authors
Download from onlinelibrary.wiley.com
,
M. von Knebel Doeberitz,
Silke Zachariae,
Aysel Ahadova,
Stefan Aretz,
Reinhard Büttner,
Heike Görgens,
Robert Hüneburg,
Magnus Knebel Doeberitz,
Magnus Knebel Doeberitz,
Matthias Kloor,
Gabriela Moeslein,
Monika Morak,
E. Holinski Feder,
Jacob Nattermann
and 12 other authors
Download from onlinelibrary.wiley.com
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