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Orphanet Journal of Rare Diseases
|
May 25, 2019
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Robert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.
European Journal of Endocrinology
|
November 4, 2011
Successful treatment of congenital hyperinsulinism with long-acting release octreotide
Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Asmaa Mamoune, et al.
Orphanet Journal of Rare Diseases
|
May 5, 2019
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Robert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2020
Patients with ACVR1<sup>R206H</sup> mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Samuel Kou, Carmen De Cunto, Geneviève Baujat, et al.
Orphanet Journal of Rare Diseases
|
February 10, 2017
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, et al.
Cells
|
November 26, 2022
Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
December 30, 2022
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)
Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, et al.
The New England Journal of Medicine
|
July 4, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
Ravi Savarirayan, Melita Irving, Carlos A Bacino, et al.
BMJ Open Gastroenterology
|
March 4, 2025
Vision-language large learning model, GPT4V, accurately classifies the Boston Bowel Preparation Scale score
Daniel Yan Zheng Lim, Yu Bin Tan, Jonas Ren Yi Ho, et al.
Journal of Medical Genetics
|
January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Geneviève Baujat, Céline Huber, Joyce El Hokayem, et al.
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of 13
Search research articles
Search
Showing results (101-110 of 123) with videos related to
Sort By:
Page
of 13
Orphanet Journal of Rare Diseases
|
May 25, 2019
Correction to: Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Robert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.
European Journal of Endocrinology
|
November 4, 2011
Successful treatment of congenital hyperinsulinism with long-acting release octreotide
Kim-Hanh Le Quan Sang, Jean-Baptiste Arnoux, Asmaa Mamoune, et al.
Orphanet Journal of Rare Diseases
|
May 5, 2019
Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Robert J Pignolo, Geneviève Baujat, Matthew A Brown, et al.
Orphanet Journal of Rare Diseases
|
July 31, 2020
Patients with ACVR1<sup>R206H</sup> mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva
Samuel Kou, Carmen De Cunto, Geneviève Baujat, et al.
Orphanet Journal of Rare Diseases
|
February 10, 2017
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, et al.
Cells
|
November 26, 2022
Effects of Nitisinone on Oxidative and Inflammatory Markers in Alkaptonuria: Results from SONIA1 and SONIA2 Studies
Daniela Braconi, Michela Geminiani, Eftychia Eirini Psarelli, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
December 30, 2022
Reduction of New Heterotopic Ossification (HO) in the Open-Label, Phase 3 MOVE Trial of Palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)
Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, et al.
The New England Journal of Medicine
|
July 4, 2019
C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia
Ravi Savarirayan, Melita Irving, Carlos A Bacino, et al.
BMJ Open Gastroenterology
|
March 4, 2025
Vision-language large learning model, GPT4V, accurately classifies the Boston Bowel Preparation Scale score
Daniel Yan Zheng Lim, Yu Bin Tan, Jonas Ren Yi Ho, et al.
Journal of Medical Genetics
|
January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families
Geneviève Baujat, Céline Huber, Joyce El Hokayem, et al.
Page
of 13