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Anna Sarkozy

Showing results (1-10 of 137) with videos related to

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Journal of Neurology|September 21, 2010
Neuromuscular disorders and 2010: recent advancesAnna Sarkozy, Hanns Lochmüller
Orphanet Journal of Rare Diseases|December 14, 2006
KBG syndromeFrancesco Brancati, Anna Sarkozy, Bruno Dallapiccola
Orphanet Journal of Rare Diseases|May 29, 2008
Leopard syndromeAnna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola
Neuropediatrics|April 21, 2017
Dystrophinopathies and Limb-Girdle Muscular DystrophiesJoana Domingos, Anna Sarkozy, Mariacristina Scoto, et al.
American Journal of Medical Genetics|September 5, 2002
Primary hypothyroidism and osteopenia associated with Neuhauser syndromeAnna Sarkozy, Rita Mingarelli, Francesco Brancati, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Ablepharon-macrostomia syndrome in a 46-year-old womanFrancesco Brancati, Rita Mingarelli, Anna Sarkozy, et al.
European Heart Journal. Case Reports|October 30, 2019
Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case reportPaola Dolader, Ella Field, Anna Sarkozy, et al.
Neuromuscular Disorders : NMD|February 22, 2023
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022Anna Sarkozy, Rosaline Quinlivan, John P Bourke, et al.
Neuromuscular Disorders : NMD|October 17, 2025
283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025Alberto Andrea Zambon, Andrea Klein, Anna Sarkozy, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1Maria Cristina Digilio, Rossella Capolino, Bruno Marino, et al.
Pageof 14

Showing results (1-10 of 137) with videos related to

Sort By:
Pageof 14
Journal of Neurology|September 21, 2010
Neuromuscular disorders and 2010: recent advancesAnna Sarkozy, Hanns Lochmüller
Orphanet Journal of Rare Diseases|December 14, 2006
KBG syndromeFrancesco Brancati, Anna Sarkozy, Bruno Dallapiccola
Orphanet Journal of Rare Diseases|May 29, 2008
Leopard syndromeAnna Sarkozy, Maria Cristina Digilio, Bruno Dallapiccola
Neuropediatrics|April 21, 2017
Dystrophinopathies and Limb-Girdle Muscular DystrophiesJoana Domingos, Anna Sarkozy, Mariacristina Scoto, et al.
American Journal of Medical Genetics|September 5, 2002
Primary hypothyroidism and osteopenia associated with Neuhauser syndromeAnna Sarkozy, Rita Mingarelli, Francesco Brancati, et al.
American Journal of Medical Genetics. Part A|April 23, 2004
Ablepharon-macrostomia syndrome in a 46-year-old womanFrancesco Brancati, Rita Mingarelli, Anna Sarkozy, et al.
European Heart Journal. Case Reports|October 30, 2019
Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case reportPaola Dolader, Ella Field, Anna Sarkozy, et al.
Neuromuscular Disorders : NMD|February 22, 2023
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022Anna Sarkozy, Rosaline Quinlivan, John P Bourke, et al.
Neuromuscular Disorders : NMD|October 17, 2025
283rd ENMC international workshop: Establishing expert care recommendations for LAMA2-RD: A prototype for the development of congenital muscular dystrophy subtype-specific care guidelines. Hoofddorp, The Netherlands, January 17th-19th 2025Alberto Andrea Zambon, Andrea Klein, Anna Sarkozy, et al.
American Journal of Medical Genetics. Part A|January 26, 2005
Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1Maria Cristina Digilio, Rossella Capolino, Bruno Marino, et al.
Pageof 14