Search research articles
Contact Us
Filters
Showing results (21-30 of 137) with videos related to
Page
of 14
Sort By:
Annals of Clinical and Translational Neurology
|
September 10, 2020
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort
Alberto A Zambon, Deborah Ridout, Marion Main, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 12, 2025
Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade
Gregory Landon, Georgia Stimpson, Michela Guglieri, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2005
Hyperthrophic cardiomyopathy and the PTPN11 gene
Anna Sarkozy, Emanuela Conti, Francesca Romana Lepri, et al.
European Journal of Human Genetics : EJHG
|
October 8, 2004
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
Anna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, et al.
Expert Opinion on Therapeutic Targets
|
December 16, 2022
Early clinical and pre-clinical therapy development in Nemaline myopathy
Gemma Fisher, Laurane Mackels, Theodora Markati, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2005
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects
Anna Sarkozy, Giorgia Esposito, Emanuela Conti, et al.
American Journal of Human Genetics
|
June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
Neuromuscular Disorders : NMD
|
January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
Alberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.
Annals of Clinical and Translational Neurology
|
June 2, 2023
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Luke Perry, Georgia Stimpson, Leeha Singh, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2008
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation
Elisabetta Mascheroni, M Cristina Digilio, Elisabetta Cortis, et al.
Page
of 14
Search research articles
Search
Showing results (21-30 of 137) with videos related to
Sort By:
Page
of 14
Annals of Clinical and Translational Neurology
|
September 10, 2020
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort
Alberto A Zambon, Deborah Ridout, Marion Main, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
February 12, 2025
Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade
Gregory Landon, Georgia Stimpson, Michela Guglieri, et al.
American Journal of Medical Genetics. Part A
|
June 7, 2005
Hyperthrophic cardiomyopathy and the PTPN11 gene
Anna Sarkozy, Emanuela Conti, Francesca Romana Lepri, et al.
European Journal of Human Genetics : EJHG
|
October 8, 2004
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
Anna Sarkozy, Maria Gabriela Obregon, Emanuela Conti, et al.
Expert Opinion on Therapeutic Targets
|
December 16, 2022
Early clinical and pre-clinical therapy development in Nemaline myopathy
Gemma Fisher, Laurane Mackels, Theodora Markati, et al.
American Journal of Medical Genetics. Part A
|
November 10, 2005
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects
Anna Sarkozy, Giorgia Esposito, Emanuela Conti, et al.
American Journal of Human Genetics
|
June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
Maria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
Neuromuscular Disorders : NMD
|
January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
Alberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.
Annals of Clinical and Translational Neurology
|
June 2, 2023
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies
Luke Perry, Georgia Stimpson, Leeha Singh, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2008
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation
Elisabetta Mascheroni, M Cristina Digilio, Elisabetta Cortis, et al.
Page
of 14