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The Journal of Pediatrics
|
November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
December 22, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
Frédérique Audic, Sonia M Dubois, Julien Durigneux, et al.
Epilepsia
|
October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.
Orphanet Journal of Rare Diseases
|
June 14, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, et al.
Orphanet Journal of Rare Diseases
|
September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Isabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
The Journal of Pediatrics
|
June 18, 2010
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood
Laurent Abel, Sabine Plancoulaine, Emmanuelle Jouanguy, et al.
European Journal of Neurology
|
May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study
Marine Tardieu, Céline Cudejko, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.
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of 15
Search research articles
Search
Showing results (111-120 of 147) with videos related to
Sort By:
Page
of 15
The Journal of Pediatrics
|
November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet
Abdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
December 22, 2023
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
Frédérique Audic, Sonia M Dubois, Julien Durigneux, et al.
Epilepsia
|
October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
Chloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2020
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire-Marine Bérat, Sebastian Montealegre, Arnaud Wiedemann, et al.
Orphanet Journal of Rare Diseases
|
June 14, 2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, et al.
Orphanet Journal of Rare Diseases
|
September 13, 2024
Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Isabelle Desguerre, Rémi Barrois, Frédérique Audic, et al.
The Journal of Pediatrics
|
June 18, 2010
Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood
Laurent Abel, Sabine Plancoulaine, Emmanuelle Jouanguy, et al.
European Journal of Neurology
|
May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study
Marine Tardieu, Céline Cudejko, Aline Cano, et al.
Orphanet Journal of Rare Diseases
|
December 14, 2012
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
David Cheillan, Marie Joncquel-Chevalier Curt, Gilbert Briand, et al.
Page
of 15