E Schaefer

Publications (4)

Multiple Micronutrients and Docosahexaenoic Acid Supplementation during Pregnancy: A Randomized Controlled Study.

Nutrients

Avec: Maddalena Massari , Chiara Novielli , Chiara Mandò , Stefania Di Francesco , Matteo Della Porta , Roberta Cazzola , Mauro Panteghini , Valeria Savasi , Silvia Maggini , Ella Schaefer , Irene Cetin

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

European journal of human genetics : EJHG

Avec: Diane Doummar , Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren , Nathalie Drouot , Ludivine Malherbe , Viviane Bouilleret , Jérémie Courraud , Maria Paola Valenti-Hirsch , Lorella Minotti , Blandine Dozieres-Puyravel , Séverine Bär , Julia Scholly , Elise Schaefer , Caroline Nava , Thomas Wirth , Hala Nasser , Marie de Salins , Anne de Saint Martin , Marie Thérèse Abi Warde , Philippe Kahane , Edouard Hirsch , Mathieu Anheim , Sylvie Friant , Jamel Chelly , Cyril Mignot , Gabrielle Rudolf

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

EMBO molecular medicine

Avec: Ariane Kröll-Hermi , Frédéric Ebstein , Corinne Stoetzel , Véronique Geoffroy , Elise Schaefer , Sophie Scheidecker , Séverine Bär , Masanari Takamiya , Koichi Kawakami , Barbara A Zieba , Fouzia Studer , Valerie Pelletier , Carine Eyermann , Claude Speeg-Schatz , Vincent Laugel , Dan Lipsker , Florian Sandron , Steven McGinn , Anne Boland , Jean-François Deleuze , Lauriane Kuhn , Johana Chicher , Philippe Hammann , Sylvie Friant , Christelle Etard , Elke Krüger , Jean Muller , Uwe Strähle , Hélène Dollfus

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clinical genetics

Avec: Varoona Bizaoui , Caroline Michot , Geneviève Baujat , Cyril Amouroux , Sabine Baron , Yline Capri , Martine Cohen-Solal , Corinne Collet , Anne Dieux , David Geneviève , Bertrand Isidor , Sophie Monnot , Massimiliano Rossi , Anya Rothenbuhler , Elise Schaefer , Valérie Cormier-Daire

Réseau de co-auteurs

Elise Schaefer 3 collaborations

Séverine Bär 2 collaborations

Sylvie Friant 2 collaborations

Maddalena Massari 1 collaboration

Chiara Novielli 1 collaboration

Chiara Mandò 1 collaboration

Stefania Di Francesco 1 collaboration

Matteo Della Porta 1 collaboration

Roberta Cazzola 1 collaboration

Mauro Panteghini 1 collaboration

Valeria Savasi 1 collaboration

Silvia Maggini 1 collaboration

Ella Schaefer 1 collaboration

Irene Cetin 1 collaboration

Diane Doummar 1 collaboration

Christel Dentel 1 collaboration

Romane Lyautey 1 collaboration

Julia Metreau 1 collaboration

Boris Keren 1 collaboration

Nathalie Drouot 1 collaboration

Ludivine Malherbe 1 collaboration

Viviane Bouilleret 1 collaboration

Jérémie Courraud 1 collaboration

Maria Paola Valenti-Hirsch 1 collaboration

Lorella Minotti 1 collaboration

Blandine Dozieres-Puyravel 1 collaboration

Julia Scholly 1 collaboration

Caroline Nava 1 collaboration

Thomas Wirth 1 collaboration

Hala Nasser 1 collaboration

Marie de Salins 1 collaboration

Anne de Saint Martin 1 collaboration

Marie Thérèse Abi Warde 1 collaboration

Philippe Kahane 1 collaboration

Edouard Hirsch 1 collaboration

Mathieu Anheim 1 collaboration

Jamel Chelly 1 collaboration

Cyril Mignot 1 collaboration

Gabrielle Rudolf 1 collaboration

Ariane Kröll-Hermi 1 collaboration

Frédéric Ebstein 1 collaboration

Corinne Stoetzel 1 collaboration

Véronique Geoffroy 1 collaboration

Sophie Scheidecker 1 collaboration

Masanari Takamiya 1 collaboration

Koichi Kawakami 1 collaboration

Barbara A Zieba 1 collaboration

Fouzia Studer 1 collaboration

Valerie Pelletier 1 collaboration

Carine Eyermann 1 collaboration

Claude Speeg-Schatz 1 collaboration

Vincent Laugel 1 collaboration

Dan Lipsker 1 collaboration

Florian Sandron 1 collaboration

Steven McGinn 1 collaboration

Anne Boland 1 collaboration

Jean-François Deleuze 1 collaboration

Lauriane Kuhn 1 collaboration

Johana Chicher 1 collaboration

Philippe Hammann 1 collaboration

Christelle Etard 1 collaboration

Elke Krüger 1 collaboration

Jean Muller 1 collaboration

Uwe Strähle 1 collaboration

Hélène Dollfus 1 collaboration

Varoona Bizaoui 1 collaboration

Caroline Michot 1 collaboration

Geneviève Baujat 1 collaboration

Cyril Amouroux 1 collaboration

Sabine Baron 1 collaboration

Yline Capri 1 collaboration

Martine Cohen-Solal 1 collaboration

Corinne Collet 1 collaboration

Anne Dieux 1 collaboration

David Geneviève 1 collaboration

Bertrand Isidor 1 collaboration

Sophie Monnot 1 collaboration

Massimiliano Rossi 1 collaboration

Anya Rothenbuhler 1 collaboration

Valérie Cormier-Daire 1 collaboration