Search Results - DiRocco, Maja

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  1. 1
    Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

    Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes by Pignolo, Robert J, Baujat, Geneviève, Brown, Matthew A, De Cunto, Carmen, Di Rocco, Maja, Hsiao, Edward C, Keen, Richard, Al Mukaddam, Mona, Sang, Kim-Hanh Le Quan, Wilson, Amy, White, Barbara, Grogan, Donna R, Kaplan, Frederick S

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  2. 2
    Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data

    Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data by Mitchell, John, Harmatz, Paul, Grant, Christina, Ferreira, Carlos R., Lampe, Christina, Selim, Laila, el Din, Iman Gamal, Mungan, Neslihan, Bulut, Fatma D., Puri, Ratna D., Bijarnia-Mahay, Sunita, Guelbert, Norberto, Zaki, Maha S., DiRocco, Maja, Kapoor, Seema, Magnusson, Bo, Sundberg, Erik, Arslan, Nur, Makay, Balahan, Hahn, Andreas, Ozen, Seza, Batu, Ezgi D., Gokcay, Gulden, Torcoletti, Marta, Solyom, Alexander

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  3. 3
    Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

    Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) by Jones, S. A., Almássy, Z., Beck, M., Burt, K., Clarke, J. T., Giugliani, R., Hendriksz, C., Kroepfl, T., Lavery, L., Lin, S.-P., Malm, G., Ramaswami, U., Tincheva, R., Wraith, J. E.

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  4. 4
    Impact on rehabilitation programs during COVID-19 containment for children with pediatric and perinatal stroke

    Impact on rehabilitation programs during COVID-19 containment for children with pediatric and perinatal stroke by Bertamino, Marta, Cornaglia, Sara, Zanetti, Alice, Di Rocco, Alessia, Ronchetti, Anna, Signa, Sara, Severino, Mariasavina, Moretti, Paolo

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  5. 5
    Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report

    Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report by Romanengo, Marta, Tortori‐Donati, Paolo, Rocco, Maja Di

    Published in Clinical genetics
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  6. 6
    Point Mutations in the Tyrosine Aminotransferase Gene in Tyrosinemia Type II

    Point Mutations in the Tyrosine Aminotransferase Gene in Tyrosinemia Type II by Natt, Ernst, Kida, Kaichi, Odievre, Michele, Di Rocco, Maja, Scherer, Gerd

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  7. 7
    Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?

    Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome? by Di Rocco, Maja, Picco, Paolo, Arslanian, Araxi, Restagno, Gabriella, Perfumo, Francesco, Buoncompagni, Antonella, Gattorno, Marco, Borrone, Carla

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