Geneviève Baujat - UFR de Médecine, Université Paris Cité

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论文共 173 篇作者统计合作学者相似作者

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Identification of Kinesin Family Member (KIF22) Homozygous Variants in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Lepdodactylic Type and Demonstration of Proteoglycan Biosynthesis Impairment

Johanne Dubail,Sophie Rondeau,Caroline Michot,Genevieve Baujat,Yline Capri,Julien Thevenon, Maelle Charpie,Zagorka Pejin,Gilles Phan,Celine Huber,Valerie Cormier-Daire

JOURNAL OF BONE AND MINERAL RESEARCHno. 3 (2024): 287-297

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Pathogenic Variants Affecting the TB5 Domain of the Fibrillin-1 Protein: Not Only in Geleophysic/acromicric Dysplasias but Also in Marfan Syndrome

Pauline Arnaud,Zakaria Mougin,Genevieve Baujat,Valerie Drouin-Garraud,Salima El Chehadeh,Laurent Gouya,Sylvie Odent,Guillaume Jondeau,Catherine Boileau,Nadine Hanna,Carine Le Goff

JOURNAL OF MEDICAL GENETICSno. 5 (2024): 469-476

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Clinical Spectrum of Rare Bone Fragility Disorders and Response to Bisphosphonate Treatment: a Retrospective Study

Maelle Charpie,Perrine Brunelle,Genevieve Baujat,Caroline Michot,Julien Van Gils,Bruno Leheup,Elise Schaefer,Eugenie Koumakis,Zagorka Pejin,Graziella Pinto,Sophie Monnot,Valerie Cormier-Daire

EUROPEAN JOURNAL OF HUMAN GENETICS (2024)

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Association of Heterotopic Ossification with Use of Aids, Assistive Devices, and Adaptations in Individuals with Fibrodysplasia Ossificans Progressiva

Robert J. Pignolo,Genevieve Baujat,Carmen De Cunto,Edward C. Hsiao,Richard Keen,Mona Al Mukaddam,Rose Marino,Elaine A. Boing,Anne-Sophie Grandoulier,Frederick S. Kaplan

JOURNAL OF BONE AND MINERAL RESEARCH (2023): 284-284

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LRP4 intracellular variant may lead to high bone mass with bone fragility: a functional analysis

Caroline Caetano da Silva,Genevieve Baujat,Adrien Bloch,Manon Ricquebourg, Kelvin Valmorin,Martine Cohen-Solal,Corinne Collet

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 385-386

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Avancées Diagnostiques

G. Baujat

Perfectionnement en pédiatrieno. 3 (2023): 3S32-3S38

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Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta

P. M. Yamaguti,M. de La Dure-molla,S. Monnot, Y. J. Cardozo-Amaya,G. Baujat,C. Michot,B. P. J. Fournier, M. C. Riou,E. C. C. Caldas Rosa, Y. Soares de Lima,P. A. C. dos Santos,G. Alcaraz,E. N. S. Guerra,L. C. Castro,S. F. de Oliveira,R. Pogue,A. Berdal,L. M. de Paula,J. F. Mazzeu,V. Cormier-Daire,A. C. Acevedo

J Dent Res（2023）

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Craniofacial Growth and Function in Achondroplasia: a Multimodal 3D Study on 15 Patients

Anne Morice,Maxime Taverne, Sophie Eché,Lucie Griffon,Brigitte Fauroux,Nicolas Leboulanger,Vincent Couloigner,Geneviève Baujat,Valérie Cormier-Daire,Arnaud Picard,Laurence Legeai-Mallet,Natacha Kadlub,Roman Hossein Khonsari

Orphanet journal of rare diseases（2023）

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Clinical heterogeneity of NADSYN1-associated VCRL syndrome

Marion Aubert-Mucca,Caroline Janel,Valerie Porquet-Bordes,Olivier Patat,Renaud Touraine,Thomas Edouard,Caroline Michot,Aude Tessier,Valerie Cormier-Daire,Tania Attie-Bitach,Genevieve Baujat

Clin Genet（2023）

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