Treffer 1 - 20 von 32 für Suche 'Morton, Kathleen O.', Suchdauer: 1,24s Treffer weiter einschränken
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    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome von Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E

    Veröffentlicht in Nature genetics

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    Genotype-phenotype correlation in NF1 : evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma MM, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D’Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine M


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    Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 von Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P, Becker, Troy A, Ben-Shachar, Shay, Bertola, Debora R, Blakeley, Jaishri O, Burkitt-Wright, Emma M.M, Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S, Cunningham, Mitch, D'Agostino, Maria D, Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R, Galvin-Parton, Patricia, George-Abraham, Jaya K, Gripp, Karen W, Guevara-Campos, Jose, Hanchard, Neil A, Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J, Keena, Beth A, Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J, Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T, Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R, Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S, Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W, Trevisson, Eva, Ullrich, Nicole J, Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R, Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R, Legius, Eric, Messiaen, Ludwine


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    Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome von Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-Ichiro, Gusella, James F, Marsh, Joseph A, Graham, Jr, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, Jr, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E

    Veröffentlicht in Nature genetics

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