Výsledky vyhledávání - Ceccherini, Isabella
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A Common 3′UTR Variant of the PHOX2B Gene Is Associated With Infant Life-Threatening and Sudden Death Events in the Italian Population Autor Bachetti, Tiziana, Bagnasco, Simona, Piumelli, Raffaele, Palmieri, Antonella, Ceccherini, Isabella
Vydáno 2021Text -
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Custom Array Comparative Genomic Hybridization: the Importance of DNA Quality, an Expert Eye, and Variant Validation Autor Lantieri, Francesca, Malacarne, Michela, Gimelli, Stefania, Santamaria, Giuseppe, Coviello, Domenico, Ceccherini, Isabella
Vydáno 2017Text -
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Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth Autor Zanni, Eleonora Di, Bianchi, Giovanna, Ravazzolo, Roberto, Raffaghello, Lizzia, Ceccherini, Isabella, Bachetti, Tiziana
Vydáno 2017Text -
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Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey Autor Rowczenio, Dorota, Shinar, Yael, Ceccherini, Isabella, Sheils, Katie, Van Gijn, Marielle, Patton, Simon J., Touitou, Isabelle
Vydáno 2019Text -
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The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells Autor Borghini, Silvia, Bachetti, Tiziana, Fava, Monica, Di Duca, Marco, Cargnin, Francesca, Fornasari, Diego, Ravazzolo, Roberto, Ceccherini, Isabella
Vydáno 2006Text -
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Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation Autor Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Vydáno 2021Text -
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Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation Autor Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella
Vydáno 2022Text -
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The Sensitivity of Activated Cys Ret Mutants to Glial Cell Line-Derived Neurotrophic Factor Is Mandatory To Rescue Neuroectodermic Cells from Apoptosis Autor Mograbi, Baharia, Bocciardi, Renata, Bourget, Isabelle, Juhel, Thierry, Farahi-Far, Dariush, Romeo, Giovanni, Ceccherini, Isabella, Rossi, Bernard
Vydáno 2001Text -
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Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome Autor Di Lascio, Simona, Benfante, Roberta, Di Zanni, Eleonora, Cardani, Silvia, Adamo, Annalisa, Fornasari, Diego, Ceccherini, Isabella, Bachetti, Tiziana
Vydáno 2017Text -
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INTERACTION BETWEEN A CHROMOSOME 10 RET ENHANCER AND CHROMOSOME 21 IN THE DOWN SYNDROME-HIRSCHSPRUNG DISEASE ASSOCIATION Autor Arnold, Stacey, Pelet, Anna, Amiel, Jeanne, Borrego, Salud, Hofstra, Robert, Tam, Paul, Ceccherini, Isabella, Lyonnet, Stanislas, Sherman, Stephanie, Chakravarti, Aravinda
Vydáno 2009Text -
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Germ Line Mutations of the ret Proto‐oncogene in Japanese Patients with Multiple Endocrine Neoplasia Type 2A and Type 2B Autor Maruyama, Shoichi, Iwashita, Toshihide, Imai, Tsuneo, Funahashi, Hiroomi, Ceccherini, Isabella, Luo, Yin, Romeo, Giovanni, Matsuo, Seiichi, Matsuyama, Mutsushi, Takahashi, Masahide
Vydáno 1994Text -
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Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature Autor Borgia, Paola, Papa, Riccardo, D'Alessandro, Matteo, Caorsi, Roberta, Piaggio, Giorgio, Angeletti, Andrea, Ceccherini, Isabella, Ghiggeri, Gian Marco, Gattorno, Marco
Vydáno 2021Text