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Journal of Neurology
|
April 25, 2012
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
Isabelle Pénisson-Besnier, Jean-Paul Saint-André, Debbie Hicks, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
KBG syndrome in a cohort of Italian patients
Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, et al.
Archives of Disease in Childhood
|
June 2, 2016
Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?
Nahla Alshaikh, Andreas Brunklaus, Tracey Davis, et al.
Neuromuscular Disorders : NMD
|
March 7, 2022
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings
Alberto A Zambon, François Abel, Barry Linnane, et al.
American Journal of Medical Genetics. Part A
|
March 9, 2006
LEOPARD syndrome: clinical diagnosis in the first year of life
M Cristina Digilio, Anna Sarkozy, Andrea de Zorzi, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
Anna Sarkozy, Annalisa Schirinzi, Francesca Lepri, et al.
Journal of Neuromuscular Diseases
|
November 19, 2023
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys
Georgia Stimpson, Deborah Ridout, Amy Wolfe, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2005
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
M Cristina Digilio, Bruno Marino, Rossella Capolino, et al.
Neuromuscular Disorders : NMD
|
February 9, 2021
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
Schaida Schirwani, Anna Sarkozy, Rahul Phadke, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
March 3, 2004
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
M Cristina Digilio, Giuseppe Pacileo, Anna Sarkozy, et al.
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Search research articles
Search
Showing results (41-50 of 137) with videos related to
Sort By:
Page
of 14
Journal of Neurology
|
April 25, 2012
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
Isabelle Pénisson-Besnier, Jean-Paul Saint-André, Debbie Hicks, et al.
American Journal of Medical Genetics. Part A
|
November 4, 2004
KBG syndrome in a cohort of Italian patients
Francesco Brancati, Maria Gabriella D'Avanzo, Maria Cristina Digilio, et al.
Archives of Disease in Childhood
|
June 2, 2016
Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?
Nahla Alshaikh, Andreas Brunklaus, Tracey Davis, et al.
Neuromuscular Disorders : NMD
|
March 7, 2022
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings
Alberto A Zambon, François Abel, Barry Linnane, et al.
American Journal of Medical Genetics. Part A
|
March 9, 2006
LEOPARD syndrome: clinical diagnosis in the first year of life
M Cristina Digilio, Anna Sarkozy, Andrea de Zorzi, et al.
American Journal of Medical Genetics. Part A
|
March 17, 2007
Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes
Anna Sarkozy, Annalisa Schirinzi, Francesca Lepri, et al.
Journal of Neuromuscular Diseases
|
November 19, 2023
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys
Georgia Stimpson, Deborah Ridout, Amy Wolfe, et al.
American Journal of Medical Genetics. Part A
|
January 26, 2005
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
M Cristina Digilio, Bruno Marino, Rossella Capolino, et al.
Neuromuscular Disorders : NMD
|
February 9, 2021
Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy
Schaida Schirwani, Anna Sarkozy, Rahul Phadke, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology
|
March 3, 2004
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations
M Cristina Digilio, Giuseppe Pacileo, Anna Sarkozy, et al.
Page
of 14