Literature DB >> 28546579

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

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

Abstract

Entities:  

Year:  2017        PMID： 28546579     DOI： 10.1038/ng0617-969c

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  1 in total

1.  SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Authors:  Natalie D Shaw; Harrison Brand; Zachary A Kupchinsky; Hemant Bengani; Lacey Plummer; Takako I Jones; Serkan Erdin; Kathleen A Williamson; Joe Rainger; Alexei Stortchevoi; Kaitlin Samocha; Benjamin B Currall; Donncha S Dunican; Ryan L Collins; Jason R Willer; Angela Lek; Monkol Lek; Malik Nassan; Shahrin Pereira; Tammy Kammin; Diane Lucente; Alexandra Silva; Catarina M Seabra; Colby Chiang; Yu An; Morad Ansari; Jacqueline K Rainger; Shelagh Joss; Jill Clayton Smith; Margaret F Lippincott; Sylvia S Singh; Nirav Patel; Jenny W Jing; Jennifer R Law; Nalton Ferraro; Alain Verloes; Anita Rauch; Katharina Steindl; Markus Zweier; Ianina Scheer; Daisuke Sato; Nobuhiko Okamoto; Christina Jacobsen; Jeanie Tryggestad; Steven Chernausek; Lisa A Schimmenti; Benjamin Brasseur; Claudia Cesaretti; Jose E García-Ortiz; Tatiana Pineda Buitrago; Orlando Perez Silva; Jodi D Hoffman; Wolfgang Mühlbauer; Klaus W Ruprecht; Bart L Loeys; Masato Shino; Angela M Kaindl; Chie-Hee Cho; Cynthia C Morton; Richard R Meehan; Veronica van Heyningen; Eric C Liao; Ravikumar Balasubramanian; Janet E Hall; Stephanie B Seminara; Daniel Macarthur; Steven A Moore; Koh-Ichiro Yoshiura; James F Gusella; Joseph A Marsh; John M Graham; Angela E Lin; Nicholas Katsanis; Peter L Jones; William F Crowley; Erica E Davis; David R FitzPatrick; Michael E Talkowski
Journal:  Nat Genet       Date:  2017-01-09       Impact factor: 38.330
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.