Showing 1–10 of 10 results
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Amendments and Corrections | | Open
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Sahar Elouej
- , Karim Harhouri
- , Morgane Le Mao
- , Genevieve Baujat
- , Sheela Nampoothiri
- , Hϋlya Kayserili
- , Nihal Al Menabawy
- , Laila Selim
- , Arianne Llamos Paneque
- , Christian Kubisch
- , Davor Lessel
- , Robert Rubinsztajn
- , Chayki Charar
- , Catherine Bartoli
- , Coraline Airault
- , Jean-François Deleuze
- , Agnes Rötig
- , Peter Bauer
- , Catarina Pereira
- , Abigail Loh
- , Nathalie Escande-Beillard
- , Antoine Muchir
- , Lisa Martino
- , Yosef Gruenbaum
- , Song-Hua Lee
- , Philippe Manivet
- , Guy Lenaers
- , Bruno Reversade
- , Nicolas Lévy
- & Annachiara De Sandre-Giovannoli
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Research | | Open
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
- Meena Balasubramanian
- , Alexander J. M. Dingemans
- , Shadi Albaba
- , Ruth Richardson
- , Thabo M. Yates
- , Helen Cox
- , Sofia Douzgou
- , Ruth Armstrong
- , Francis H. Sansbury
- , Katherine B. Burke
- , Andrew E. Fry
- , Nicola Ragge
- , Saba Sharif
- , Alison Foster
- , Annachiara De Sandre-Giovannoli
- , Sahar Elouej
- , Pradeep Vasudevan
- , Sahar Mansour
- , Kate Wilson
- , Helen Stewart
- , Solveig Heide
- , Caroline Nava
- , Boris Keren
- , Serwet Demirdas
- , Alice S. Brooks
- , Marie Vincent
- , Bertrand Isidor
- , Sebastien Küry
- , Meyke Schouten
- , Erika Leenders
- , Wendy K. Chung
- , Arie van Haeringen
- , Thomas Scheffner
- , Francois-Guillaume Debray
- , Susan M. White
- , Maria Irene Valenzuela Palafoll
- , Rolph Pfundt
- , Ruth Newbury-Ecob
- & Tjitske Kleefstra
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Research | | Open
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
- Sahar Elouej
- , Karim Harhouri
- , Morgane Le Mao
- , Genevieve Baujat
- , Sheela Nampoothiri
- , Hϋlya Kayserili
- , Nihal Al Menabawy
- , Laila Selim
- , Arianne Llamos Paneque
- , Christian Kubisch
- , Davor Lessel
- , Robert Rubinsztajn
- , Chayki Charar
- , Catherine Bartoli
- , Coraline Airault
- , Jean-François Deleuze
- , Agnes Rötig
- , Peter Bauer
- , Catarina Pereira
- , Abigail Loh
- , Nathalie Escande-Beillard
- , Antoine Muchir
- , Lisa Martino
- , Yosef Gruenbaum
- , Song-Hua Lee
- , Philippe Manivet
- , Guy Lenaers
- , Bruno Reversade
- , Nicolas Lévy
- & Annachiara De Sandre-Giovannoli
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Research | | Open
Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13
- Patricia R. Pitrez
- , Luís Estronca
- , Luís Miguel Monteiro
- , Guillem Colell
- , Helena Vazão
- , Deolinda Santinha
- , Karim Harhouri
- , Daniel Thornton
- , Claire Navarro
- , Anne-Laure Egesipe
- , Tânia Carvalho
- , Rodrigo L. Dos Santos
- , Nicolas Lévy
- , James C. Smith
- , João Pedro de Magalhães
- , Alessandro Ori
- , Andreia Bernardo
- , Annachiara De Sandre-Giovannoli
- , Xavier Nissan
- , Anna Rosell
- & Lino Ferreira
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Research | | Open
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Research | | Open
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Research | | Open
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Research |
Truncated prelamin A expression in HGPS-like patients: a transcriptional study
- Florian Barthélémy
- , Claire Navarro
- , Racha Fayek
- , Nathalie Da Silva
- , Patrice Roll
- , Sabine Sigaudy
- , Junko Oshima
- , Gisèle Bonne
- , Kyriaki Papadopoulou-Legbelou
- , Athanasios E Evangeliou
- , Martha Spilioti
- , Martine Lemerrer
- , Ron A Wevers
- , Eva Morava
- , Andrée Robaglia-Schlupp
- , Nicolas Lévy
- , Marc Bartoli
- & Annachiara De Sandre-Giovannoli
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Research |
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update
- Claire Laure Navarro
- , Vera Esteves-Vieira
- , Sébastien Courrier
- , Amandine Boyer
- , Thuy Duong Nguyen
- , Le Thi Thanh Huong
- , Peter Meinke
- , Winnie Schröder
- , Valérie Cormier-Daire
- , Yves Sznajer
- , David J Amor
- , Kristina Lagerstedt
- , Martine Biervliet
- , Peter C van den Akker
- , Pierre Cau
- , Patrice Roll
- , Nicolas Lévy
- , Catherine Badens
- , Manfred Wehnert
- & Annachiara De Sandre-Giovannoli
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Research |
