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Number of items: 4.

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; et al (2017). Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics, 49(6):969.

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; et al (2017). SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nature Genetics, 49(2):238-248.

Avbelj Stefanija, Magdalena; Jeanpierre, Marc; Sykiotis, Gerasimos P; Young, Jacques; Quinton, Richard; Abreu, Ana Paula; Plummer, Lacey; Au, Margaret G; Balasubramanian, Ravikumar; Dwyer, Andrew A; Florez, Jose C; Cheetham, Timothy; Pearce, Simon H; Purushothaman, Radhika; Schinzel, Albert; Pugeat, Michel; Jacobson-Dickman, Elka E; Ten, Svetlana; Latronico, Ana Claudia; Gusella, James F; Dode, Catherine; Crowley, William F; Pitteloud, Nelly (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19):4314-4324.

Gianetti, Elena; Hall, Janet E; Au, Margaret G; Kaiser, Ursula B; Quinton, Richard; Stewart, Jane A; Metzger, Daniel L; Pitteloud, Nelly; Mericq, Veronica; Merino, Paulina M; Levitsky, Lynne L; Izatt, Louise; Lang-Muritano, Mariarosaria; Fujimoto, Victor Y; Dluhy, Robert G; Chase, Matthew L; Crowley, William F; Plummer, Lacey; Seminara, Stephanie B (2012). When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). Journal of Clinical Endocrinology & Metabolism, 97(9):E1798-E1807.

This list was generated on Mon Nov 20 04:33:34 2017 CET.