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authFullName_s : Geneviève Baujat
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Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders.

Dominique Lasne , Geneviève Baujat , Tristan Mirault , Joël Lunardi , Françoise Grelac , et al.
British Journal of Haematology, 2010, 150 (6), pp.685-8. ⟨10.1111/j.1365-2141.2010.08304.x⟩
Journal articles inserm-00588304v1
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Anatomical and functional abnormalities on MRI in kabuki syndrome

Jennifer Boisgontier , Jean Marc Tacchella , Hervé Lemaitre , Natacha Lehman , Ana Saitovitch , et al.
Neuroimage-Clinical, 2019, 21, pp.101610. ⟨10.1016/j.nicl.2018.11.020⟩
Journal articles hal-02573243v1

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

David Dawei Yang , Geneviève Baujat , Antoine Neuraz , Nicolas Garcelon , Claude Messiaen , et al.
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.2. ⟨10.1186/s13023-019-1284-1⟩
Journal articles hal-03887220v1
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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

Agnès Taillandier , Christelle Domingues , Clémence de Cazanove , Valérie Porquet-Bordes , Sophie Monnot , et al.
Molecular Genetics and Metabolism, 2015, 116 (3), pp.215-220. ⟨10.1016/j.ymgme.2015.09.010⟩
Journal articles hal-01214009v1
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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families

Valérie Cormier-Daire , Céline Huber , Geneviève Baujat , R Caumes , Honorine Kayirangwa , et al.
First International Cilia in Development and Disease Scientific Conference, pp.O4
Conference papers inserm-00752961v1
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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Nadège Calmels , Géraldine Greff , Cathy Obringer , Nadine Kempf , Claire Gasnier , et al.
Orphanet Journal of Rare Diseases, 2016, 11 (1), pp.26. ⟨10.1186/s13023-016-0408-0⟩
Journal articles hal-01295286v1
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Lumbar spinal stenosis and disc alterations affect the upper lumbar spine in adults with achondroplasia

Thomas Huet , Martine Cohen-Solal , Jean-Denis Laredo , Corinne Collet , Geneviève Baujat , et al.
Scientific Reports, 2020, 10 (1), pp.4699. ⟨10.1038/s41598-020-61704-w⟩
Journal articles inserm-02511411v1
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From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Haifa Hichri , John Rendu , Nicole Monnier , Charles Coutton , Olivier Dorseuil , et al.
Human Mutation, 2011, 32 (4), pp.379-88. ⟨10.1002/humu.21391⟩
Journal articles istex inserm-00639693v1
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New insights into genotype-phenotype correlation for GLI3 mutations

Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye , et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Journal articles hal-01064583v1
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Evaluation of nasal obstruction in children by acoustic rhinometry: A prospective study

Léa Distinguin , Bruno Louis , Geneviève Baujat , Alessandro Amaddeo , Brigitte Fauroux , et al.
International Journal of Pediatric Otorhinolaryngology, 2019, 127, pp.109665 -. ⟨10.1016/j.ijporl.2019.109665⟩
Journal articles hal-03487850v1
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Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

Valentin Ruault , Kevin Yauy , Aurélie Fabre , Mélanie Fradin , Julien Van-Gils , et al.
Arthritis & rheumatology, 2020, 72 (10), pp.1689 - 1693. ⟨10.1002/art.41387⟩
Journal articles hal-03714570v1
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Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

Geneviève Baujat , Rémy Choquet , Stéphane Bouée , Viviane Jeanbat , Laurène Courouve , et al.
Orphanet Journal of Rare Diseases, 2016, 12 (1), pp.123. ⟨10.1186/s13023-017-0674-5⟩
Journal articles inserm-01552312v1