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Papers共 8 篇Author StatisticsCo-AuthorSimilar Experts

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)
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. Garcia-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Muhlbauer,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,Jr. Graham John M.,Angela E. Lin,Nicholas Katsanis,Peter L. Jones,Jr. Crowley William F.,Erica E. Davis,David R. FitzPatrick,Michael E. Talkowski
NATURE GENETICS（2017）
Cited133Views0Bibtex
133
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IDENTIFICATION OF SMCHD1 MUTATIONS IN A SEVERE FORM OF KALLMANN SYNDROME (KS) WITH ABSENCE OF THE NOSE (ARHINIA) ATTESTS TO THE POWER OF EXTREME PHENOTYPES IN HUMAN REPRODUCTIVE GENE DISCOVERY
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, Syliva 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, Christiana Jacobsen, Jeanine Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti, Benjamin Brasseur,Claudia Cesaretti,Jose E. Garcia-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Muhlbauer,Klaus W. Ruprecht,Bart L. Loeys,Masato Shino,Angela M. Kaindl,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Daniel Macarthur,Steven A. Moore,Koh-Ichiro Yoshiura,James F. Gusella,Joseph A. Marsh,Jr. Graham John M.,Angela E. Lin,Nicholas Katsanis,Peter L. Jones,Jr. Crowley William F.,Erica E. Davis,David R. Fitzpatrick,Michael E. Talkowski,Chie-Hee Cho,Cynthia C. Morton,Richard R. Meehan,Veronica Van Heyningen,Eric C. Liao
HORMONE RESEARCH IN PAEDIATRICS（2017）
Cited0Views0Bibtex
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Author Statistics

#Papers: 8

#Citation: 227

H-Index: 4

G-Index: 6

Sociability: 5

Diversity: 2

Activity: 0

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