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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.
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.
Journal articles
hal-02573243v1
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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.
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.
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.
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.
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.
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.
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.
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.
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.
Journal articles
inserm-01552312v1
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