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1 . Academic Journal
Study methodology and insights from the palovarotene clinical development program in fibrodysplasia ossificans progressiva
저자
by
Robert J. Pignolo
;
Mona Al Mukaddam
;
Geneviève Baujat
;
Matthew A. Brown
;
Carmen De Cunto
, et al.
소스
BMC Medical Research Methodology, Vol 23, Iss 1, Pp 1-13 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis
저자
by
Melita Irving
;
Moeenaldeen AlSayed
;
Paul Arundel
;
Geneviève Baujat
;
Tawfeg Ben-Omran
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
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7 . Academic Journal
Real-world evidence in achondroplasia: considerations for a standardized data set
저자
by
Yasemin Alanay
;
Klaus Mohnike
;
Ola Nilsson
;
Inês Alves
;
Moeenaldeen AlSayed
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients
저자
by
Anne Morice
;
Maxime Taverne
;
Sophie Eché
;
Lucie Griffon
;
Brigitte Fauroux
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
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7 . Academic Journal
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
저자
by
Quentin Hennocq
;
Thomas Bongibault
;
Sandrine Marlin
;
Jeanne Amiel
;
Tania Attie-Bitach
, et al.
소스
Frontiers in Pediatrics, Vol 11 (2023)
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7 . Academic Journal
Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice
저자
by
Léa Loisay
;
Davide Komla-Ebri
;
Anne Morice
;
Yann Heuzé
;
Camille Viaut
, et al.
소스
JCI Insight, Vol 8, Iss 12 (2023)
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7 . Academic Journal
Prevalence of fibrodysplasia ossificans progressiva (FOP) in the United States: estimate from three treatment centers and a patient organization
저자
by
Robert J. Pignolo
;
Edward C. Hsiao
;
Genevieve Baujat
;
David Lapidus
;
Adam Sherman
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
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7 . Academic Journal
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology
저자
by
Sahar Elouej
;
Karim Harhouri
;
Morgane Le Mao
;
Genevieve Baujat
;
Sheela Nampoothiri
, et al.
소스
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
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7 . Academic Journal
Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
저자
by
Samuel Kou
;
Carmen De Cunto
;
Geneviève Baujat
;
Kelly L. Wentworth
;
Donna R. Grogan
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
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7 . Academic Journal
Healthcare trajectory of children with rare bone disease attending pediatric emergency departments
저자
by
David Dawei Yang
;
Geneviève Baujat
;
Antoine Neuraz
;
Nicolas Garcelon
;
Claude Messiaen
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
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