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Human Mutation
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May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
David Baux, Valérie Faugère, Lise Larrieu, et al.
Orphanet Journal of Rare Diseases
|
June 5, 2019
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
Marie De Antonio, Céline Dogan, Ferroudja Daidj, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 20, 2021
Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy
Patricia Hafner, Simone Schmidt, Sabine Schädelin, et al.
European Heart Journal
|
December 15, 2010
Dissection in Marfan syndrome: the importance of the descending aorta
Lea Mimoun, Delphine Detaint, Dalil Hamroun, et al.
Annals of Hematology
|
August 30, 2022
Real-world therapeutic response and tyrosine kinase inhibitor discontinuation in chronic phase-chronic myeloid leukemia: data from the French observatory
Sandrine Saugues, Céline Lambert, Elisabeth Daguenet, et al.
Circulation
|
December 3, 2011
Aortic event rate in the Marfan population: a cohort study
Guillaume Jondeau, Delphine Detaint, Florence Tubach, et al.
Archives of Cardiovascular Diseases
|
March 20, 2012
Surgical management of patients with Marfan syndrome: evolution throughout the years
Alireza Samadi, Delphine Detaint, Carine Roy, et al.
Human Mutation
|
January 4, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene
Gaelle Blandin, Christophe Beroud, Veronique Labelle, et al.
European Journal of Neurology
|
March 18, 2022
Macroglossia: A potentially severe complication of late-onset Pompe disease
Charlotte Dupé, Claire Lefeuvre, Guilhem Solé, et al.
Archives of Physical Medicine and Rehabilitation
|
June 29, 2014
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy
Carole Vuillerot, Pascal Rippert, Virginie Kinet, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
Human Mutation
|
May 20, 2008
UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes
David Baux, Valérie Faugère, Lise Larrieu, et al.
Orphanet Journal of Rare Diseases
|
June 5, 2019
The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
Marie De Antonio, Céline Dogan, Ferroudja Daidj, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 20, 2021
Implementation of Motor Function Measure score percentile curves - Predicting motor function loss in Duchenne muscular dystrophy
Patricia Hafner, Simone Schmidt, Sabine Schädelin, et al.
European Heart Journal
|
December 15, 2010
Dissection in Marfan syndrome: the importance of the descending aorta
Lea Mimoun, Delphine Detaint, Dalil Hamroun, et al.
Annals of Hematology
|
August 30, 2022
Real-world therapeutic response and tyrosine kinase inhibitor discontinuation in chronic phase-chronic myeloid leukemia: data from the French observatory
Sandrine Saugues, Céline Lambert, Elisabeth Daguenet, et al.
Circulation
|
December 3, 2011
Aortic event rate in the Marfan population: a cohort study
Guillaume Jondeau, Delphine Detaint, Florence Tubach, et al.
Archives of Cardiovascular Diseases
|
March 20, 2012
Surgical management of patients with Marfan syndrome: evolution throughout the years
Alireza Samadi, Delphine Detaint, Carine Roy, et al.
Human Mutation
|
January 4, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene
Gaelle Blandin, Christophe Beroud, Veronique Labelle, et al.
European Journal of Neurology
|
March 18, 2022
Macroglossia: A potentially severe complication of late-onset Pompe disease
Charlotte Dupé, Claire Lefeuvre, Guilhem Solé, et al.
Archives of Physical Medicine and Rehabilitation
|
June 29, 2014
Rasch analysis of the motor function measure in patients with congenital muscle dystrophy and congenital myopathy
Carole Vuillerot, Pascal Rippert, Virginie Kinet, et al.
Page
of 5