Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts von Neves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M., Caputi, Caterina, Cirillo, Emilia, Coman, David J., Dückers, Gregor, Gilbert, Donald L., Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L., Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler‐Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P., Dineen, Robert A.

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Inferring parental gonadal mosaicism in LMNA‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic... von Perez Maturo, Josefina, Vega, Patricia, Medina, Nancy, Salinas, Valeria, Pauni, Micaela, Agosta, Guillermo, Muntadas Rausei, Javier, Kauffman, Marcelo

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Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts von Neves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M, Caputi, Caterina, Cirillo, Emilia, Coman, David J, Dückers, Gregor, Gilbert, Donald L, Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L, Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler-Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P, Dineen, Robert A

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Late diagnosis of spinal muscular atrophy in a patient with Down syndrome von Squitín Tasende, Magalí, Pauni, Micaela, Armando, Romina, Muntadas, Javier

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