Хайлтын үр дүнгүүд - Sarkozy, Anna

KBG syndrome -н Brancati, Francesco, Sarkozy, Anna, Dallapiccola, Bruno

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Leopard syndrome -н Sarkozy, Anna, Digilio, Maria Cristina, Dallapiccola, Bruno

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Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report -н Dolader, Paola, Field, Ella, Sarkozy, Anna, Kaski, Juan Pablo

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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness -н Sarkozy, Anna, Foley, A. Reghan, Zambon, Alberto A., Bönnemann, Carsten G., Muntoni, Francesco

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LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort -н Zambon, Alberto A., Ridout, Deborah, Main, Marion, Mein, Rachael, Phadke, Rahul, Muntoni, Francesco, Sarkozy, Anna

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Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene -н Digilio, Maria Cristina, Conti, Emanuela, Sarkozy, Anna, Mingarelli, Rita, Dottorini, Tania, Marino, Bruno, Pizzuti, Antonio, Dallapiccola, Bruno

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Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis -н Harris, Elizabeth, Laval, Steve, Hudson, Judith, Barresi, Rita, De Waele, Liesbeth, Straub, Volker, Lochmüller, Hanns, Bushby, Kate, Sarkozy, Anna

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New aspects on patients affected by dysferlin deficient muscular dystrophy -н Klinge, Lars, Aboumousa, Ahmed, Eagle, Michelle, Hudson, Judith, Sarkozy, Anna, Vita, Gianluca, Charlton, Richard, Roberts, Mark, Straub, Volker, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate

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Growth pattern trajectories in boys with Duchenne muscular dystrophy -н Stimpson, Georgia, Raquq, Sarah, Chesshyre, Mary, Fewtrell, Mary, Ridout, Deborah, Sarkozy, Anna, Manzur, Adnan, Ayyar Gupta, Vandana, De Amicis, Ramona, Muntoni, Francesco, Baranello, Giovanni

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Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene -н Sarkozy, Anna, Windpassinger, Christian, Hudson, Judith, Dougan, Charlotte F, Lecky, Bryan, Hilton-Jones, David, Eagle, Michelle, Charlton, Richard, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate, Straub, Volker

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Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome -н Limongelli, Giuseppe, Pacileo, Giuseppe, Russo, Maria Giovanna, Sarkozy, Anna, Felicetti, Maria, Di Salvo, Giovanni, Morelli, Carmela, Calabrò, Paolo, Paladini, Dario, Marino, Bruno, Dallapiccola, Bruno, Calabrò, Raffaele

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Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation -н Odgerel, Zagaa, Sarkozy, Anna, Lee, Hee-Suk, McKenna, Caoimhe, Rankin, Julia, Straub, Volker, Lochmüller, Hanns, Paola, Francalanci, D’Amico, Adele, Bertini, Enrico, Bushby, Kate, Goldfarb, Lev G

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations -н Dentici, Maria Lisa, Sarkozy, Anna, Pantaleoni, Francesca, Carta, Claudio, Lepri, Francesca, Ferese, Rosangela, Cordeddu, Viviana, Martinelli, Simone, Briuglia, Silvana, Digilio, Maria Cristina, Zampino, Giuseppe, Tartaglia, Marco, Dallapiccola, Bruno

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Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype -н Carta, Claudio, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Stella, Lorenzo, Vasta, Isabella, Sarkozy, Anna, Digilio, Cristina, Palleschi, Antonio, Pizzuti, Antonio, Grammatico, Paola, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

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A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot -н Guida, Valentina, Ferese, Rosangela, Rocchetti, Marcella, Bonetti, Monica, Sarkozy, Anna, Cecchetti, Serena, Gelmetti, Vania, Lepri, Francesca, Copetti, Massimiliano, Lamorte, Giuseppe, Cristina Digilio, Maria, Marino, Bruno, Zaza, Antonio, den Hertog, Jeroen, Dallapiccola, Bruno, De Luca, Alessandro

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Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort -н Brunet Garcia, Laia, Hajra, Ankita, Field, Ella, Wacher, Joseph, Walsh, Helen, Norrish, Gabrielle, Manzur, Adnan, Muntoni, Francesco, Munot, Pinki, Robb, Stephanie, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Sarkozy, Anna, Starling, Luke, Kaski, Juan Pablo, Cervi, Elena

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NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome -н De Luca, Alessandro, Bottillo, Irene, Sarkozy, Anna, Carta, Claudio, Neri, Cinzia, Bellacchio, Emanuele, Schirinzi, Annalisa, Conti, Emanuela, Zampino, Giuseppe, Battaglia, Agatino, Majore, Silvia, Rinaldi, Maria M., Carella, Massimo, Marino, Bruno, Pizzuti, Antonio, Digilio, Maria Cristina, Tartaglia, Marco, Dallapiccola, Bruno

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Clinical features of the myasthenic syndrome arising from mutations in GMPPB -н Rodríguez Cruz, Pedro M, Belaya, Katsiaryna, Basiri, Keivan, Sedghi, Maryam, Farrugia, Maria Elena, Holton, Janice L, Liu, Wei Wei, Maxwell, Susan, Petty, Richard, Walls, Timothy J, Kennett, Robin, Pitt, Matthew, Sarkozy, Anna, Parton, Matt, Lochmüller, Hanns, Muntoni, Francesco, Palace, Jacqueline, Beeson, David

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Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials -н Silwal, Arpana, Sarkozy, Anna, Scoto, Mariacristina, Ridout, Deborah, Schmidt, Anne, Laverty, Aidan, Henriques, Matilde, D'Argenzio, Luigi, Main, Marion, Mein, Rachael, Manzur, Adnan Y, Abel, Francois, Al‐Ghamdi, Fouad, Genetti, Casie A, Ardicli, Didem, Haliloglu, Goknur, Topaloglu, Haluk, Beggs, Alan H, Muntoni, Francesco

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Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia -н Nasca, Alessia, Scotton, Chiara, Zaharieva, Irina, Neri, Marcella, Selvatici, Rita, Magnusson, Olafur Thor, Gal, Aniko, Weaver, David, Rossi, Rachele, Armaroli, Annarita, Pane, Marika, Phadke, Rahul, Sarkozy, Anna, Muntoni, Francesco, Hughes, Imelda, Cecconi, Antonella, Hajnóczky, György, Donati, Alice, Mercuri, Eugenio, Zeviani, Massimo, Ferlini, Alessandra, Ghezzi, Daniele

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