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Anna Sarkozy

Showing results (61-70 of 137) with videos related to

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Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.
International Journal of Cardiology|September 4, 2007
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and managementGiuseppe Limongelli, Giuseppe Pacileo, Maria Cristina Digilio, et al.
Journal of Prenatal Medicine|March 23, 2012
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndromeGiuseppe Limongelli, Giuseppe Pacileo, Maria Giovanna Russo, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Human Mutation|October 1, 2003
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio Pizzuti, Anna Sarkozy, Anthea L Newton, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connectionGiorgia Esposito, Giorgia Grutter, Fabrizio Drago, et al.
Muscle & Nerve|November 25, 2015
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophyRamesh Srinivasan, David Rawlings, Claire L Wood, et al.
Neuromuscular Disorders : NMD|August 19, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panelsAgata Oliwa, Gavin Langlands, Anna Sarkozy, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
Pageof 14

Showing results (61-70 of 137) with videos related to

Sort By:
Pageof 14
Neuromuscular Disorders : NMD|July 8, 2010
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutationZagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, et al.
International Journal of Cardiology|September 4, 2007
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and managementGiuseppe Limongelli, Giuseppe Pacileo, Maria Cristina Digilio, et al.
Journal of Prenatal Medicine|March 23, 2012
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndromeGiuseppe Limongelli, Giuseppe Pacileo, Maria Giovanna Russo, et al.
European Journal of Human Genetics : EJHG|June 2, 2011
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneAnna Sarkozy, Christian Windpassinger, Judith Hudson, et al.
Human Mutation|October 1, 2003
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of FallotAntonio Pizzuti, Anna Sarkozy, Anthea L Newton, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connectionGiorgia Esposito, Giorgia Grutter, Fabrizio Drago, et al.
Muscle & Nerve|November 25, 2015
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophyRamesh Srinivasan, David Rawlings, Claire L Wood, et al.
Neuromuscular Disorders : NMD|August 19, 2023
Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panelsAgata Oliwa, Gavin Langlands, Anna Sarkozy, et al.
European Journal of Human Genetics : EJHG|January 22, 2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlationsMaria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, et al.
Heart (British Cardiac Society)|November 26, 2009
Familial transposition of the great arteries caused by multiple mutations in laterality genesAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
Pageof 14