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Anna Sarkozy

Showing results (51-60 of 137) with videos related to

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European Journal of Pediatrics|August 30, 2007
Costello syndrome: clinical diagnosis in the first year of lifeM Cristina Digilio, Anna Sarkozy, Rossella Capolino, et al.
Neuromuscular Disorders : NMD|August 2, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathyValentine Perrain, Christopher J Record, Mariola Skorupinska, et al.
Neuromuscular Disorders : NMD|October 16, 2012
Presymptomatic late-onset Pompe disease identified by the dried blood spot testMatias Wagner, Amina Chaouch, Juliane S Müller, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old womanGiuseppe Limongelli, Giuseppe Pacileo, Daniela Melis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 17, 2009
New aspects on patients affected by dysferlin deficient muscular dystrophyLars Klinge, Ahmed Aboumousa, Michelle Eagle, et al.
Orphanet Journal of Rare Diseases|January 25, 2022
Growth pattern trajectories in boys with Duchenne muscular dystrophyGeorgia Stimpson, Sarah Raquq, Mary Chesshyre, et al.
Neuromuscular Disorders : NMD|May 28, 2019
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvementDidem Ardicli, Anna Sarkozy, Irina Zaharieva, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteriesGerardo Piacentini, M Cristina Digilio, Rossella Capolino, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndromeGiuseppe Limongelli, Anna Sarkozy, Giuseppe Pacileo, et al.
Pageof 14

Showing results (51-60 of 137) with videos related to

Sort By:
Pageof 14
European Journal of Pediatrics|August 30, 2007
Costello syndrome: clinical diagnosis in the first year of lifeM Cristina Digilio, Anna Sarkozy, Rossella Capolino, et al.
Neuromuscular Disorders : NMD|August 2, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathyValentine Perrain, Christopher J Record, Mariola Skorupinska, et al.
Neuromuscular Disorders : NMD|October 16, 2012
Presymptomatic late-onset Pompe disease identified by the dried blood spot testMatias Wagner, Amina Chaouch, Juliane S Müller, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Trisomy 18 and hypertrophy cardiomyopathy in an 18-year-old womanGiuseppe Limongelli, Giuseppe Pacileo, Daniela Melis, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 17, 2009
New aspects on patients affected by dysferlin deficient muscular dystrophyLars Klinge, Ahmed Aboumousa, Michelle Eagle, et al.
Orphanet Journal of Rare Diseases|January 25, 2022
Growth pattern trajectories in boys with Duchenne muscular dystrophyGeorgia Stimpson, Sarah Raquq, Mary Chesshyre, et al.
Neuromuscular Disorders : NMD|May 28, 2019
A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvementDidem Ardicli, Anna Sarkozy, Irina Zaharieva, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteriesGerardo Piacentini, M Cristina Digilio, Rossella Capolino, et al.
Neuromuscular Disorders : NMD|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
American Journal of Medical Genetics. Part A|February 5, 2008
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndromeGiuseppe Limongelli, Anna Sarkozy, Giuseppe Pacileo, et al.
Pageof 14