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Items: 1 to 20 of 22

1.
Alison M Boyce, Rachel I Gafni, Carlos R Ferreira
Curr Osteoporos Rep.
Published in final edited form as: Curr Osteoporos Rep. 2020 Jun; 18(3): 232–241. doi: 10.1007/s11914-020-00577-4
PMCID:
PMC9506683
2.
Carlos R Ferreira, Dillon Kavanagh, Ralf Oheim, Kristin Zimmerman, Julian Stürznickel, Xiaofeng Li, Paul Stabach, R Luke Rettig, Logan Calderone, Colin MacKichan, Aaron Wang, Hunter A Hutchinson, Tracy Nelson, Steven M Tommasini, Simon von Kroge, Imke AK Fiedler, Ethan R Lester, Gilbert W Moeckel, Björn Busse, Thorsten Schinke, Thomas O Carpenter, Michael A Levine, Mark C Horowitz, Demetrios T Braddock
J Bone Miner Res.
Published in final edited form as: J Bone Miner Res. 2021 May; 36(5): 942–955. Published online 2021 Feb 18. doi: 10.1002/jbmr.4254
PMCID:
PMC8739051
3.
Carlos R. Ferreira, Mary E. Hackbarth, Shira G. Ziegler, Kristen S. Pan, Mary S. Roberts, Douglas R. Rosing, Margaret S. Whelpley, Joy C. Bryant, Ellen F. Macnamara, Sisi Wang, Kerstin Müller, Iris R. Hartley, Emily Y. Chew, Timothy E. Corden, Christina M. Jacobsen, Ingrid A. Holm, Frank Rutsch, Esra Dikoglu, Marcus Y. Chen, M. Zulf Mughal, Michael A. Levine, Rachel I. Gafni, William A. Gahl
Genet Med.
Published in final edited form as: Genet Med. 2021 Feb; 23(2): 396–407. Published online 2020 Oct 2. doi: 10.1038/s41436-020-00983-0
PMCID:
PMC7867608
4.
Anupam Kotwal, Alejandro Ferrer, Rajiv Kumar, Ravinder J Singh, Vishakantha Murthy, Laura Schultz-Rogers, Michael Zimmermann, Brendan Lanpher, Kristin Zimmerman, Paul R Stabach, Eric Klee, Demetrios T Braddock, Robert A Wermers
J Bone Miner Res.
Published in final edited form as: J Bone Miner Res. 2020 Apr; 35(4): 662–670. Published online 2020 Jan 16. doi: 10.1002/jbmr.3938
PMCID:
PMC7771569
5.
Ralf Oheim, Kristin Zimmerman, Nathan D Maulding, Julian Stürznickel, Simon von Kroge, Dillon Kavanagh, Paul R Stabach, Uwe Kornak, Steven M Tommasini, Mark C Horowitz, Michael Amling, David Thompson, Thorsten Schinke, Björn Busse, Thomas O. Carpenter, Demetrios T Braddock
J Bone Miner Res. 2020 Mar; 35(3): 528–539. Published online 2019 Dec 5. doi: 10.1002/jbmr.3911
PMCID:
PMC7184798
6.
Fatma Dursun, Tülay Atasoy Öztürk, Serçin Güven, Heves Kırmızıbekmez, Gülcan Seymen Karabulut, Sevinç Kalın, Betül Sözeri
J Clin Res Pediatr Endocrinol. 2019 Sep; 11(3): 311–318. Published online 2019 Sep 3. doi: 10.4274/jcrpe.galenos.2018.2018.0204
PMCID:
PMC6745454
7.
Tayeba Khan, Kerstin W. Sinkevicius, Sylvia Vong, Arlen Avakian, Markley C. Leavitt, Hunter Malanson, Andre Marozsan, Kim L. Askew
Dis Model Mech. 2018 Oct 1; 11(10): dmm035691. Published online 2018 Oct 8. doi: 10.1242/dmm.035691
PMCID:
PMC6215426
8.
Yvonne Nitschke, Yan Yan, Insa Buers, Kristina Kintziger, Kim Askew, Frank Rutsch
Exp Mol Med. 2018 Oct; 50(10): 139. Published online 2018 Oct 29. doi: 10.1038/s12276-018-0163-5
PMCID:
PMC6204430
9.
Robert Louis, Daniella Levy-Erez, Anne Marie Cahill, Kevin E. Meyers
Pediatr Nephrol.
Published in final edited form as: Pediatr Nephrol. 2018 Sep; 33(9): 1593–1599. Published online 2018 Jun 4. doi: 10.1007/s00467-018-3983-6
PMCID:
PMC6082421
10.
Joshua Kingman, Jouni Uitto, Qiaoli Li
Oncotarget. 2017 Jun 13; 8(24): 38152–38160. Published online 2017 Mar 29. doi: 10.18632/oncotarget.16687
PMCID:
PMC5503522
11.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper
Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6
PMCID:
PMC5429360
12.
Ronald A. Albright, Paul Stabach, Wenxiang Cao, Dillon Kavanagh, Isabelle Mullen, Alexander A. Braddock, Mariel S. Covo, Martin Tehan, Guangxiao Yang, Zhiliang Cheng, Keith Bouchard, Zhao-Xue Yu, Stephanie Thorn, Xiangning Wang, Ewa J. Folta-Stogniew, Alejandro Negrete, Albert J. Sinusas, Joseph Shiloach, George Zubal, Joseph A. Madri, Enrique M. De La Cruz, Demetrios T. Braddock
Nat Commun. 2015; 6: 10006. Published online 2015 Dec 1. doi: 10.1038/ncomms10006
PMCID:
PMC4686714
13.
Ori Eytan, Fanny Morice-Picard, Ofer Sarig, Khaled Ezzedine, Ofer Isakov, Qiaoli Li, Akemi Ishida-Yamamoto, Noam Shomron, Tomer Goldsmith, Dana Fuchs-Telem, Noam Adir, Jouni Uitto, Seth J. Orlow, Alain Taieb, Eli Sprecher
Am J Hum Genet. 2013 Oct 3; 93(4): 752–757. doi: 10.1016/j.ajhg.2013.08.007
PMCID:
PMC3791268
14.
Huma Shaireen, Alexandra Howlett, Harish Amin, Kamran Yusuf, Majeeda Kamaluddeen, Abhay Lodha
BMC Pediatr. 2013; 13: 107. Published online 2013 Jul 16. doi: 10.1186/1471-2431-13-107
PMCID:
PMC3724600
15.
Qiaoli Li, Haitao Guo, David W. Chou, Dominic J. Harrington, Leon J. Schurgers, Sharon F. Terry, Jouni Uitto
Am J Pathol. 2013 Apr; 182(4): 1139–1150. doi: 10.1016/j.ajpath.2012.12.037
PMCID:
PMC3620423
16.
Yvonne Nitschke, Frank Rutsch
Front Genet. 2012; 3: 302. Published online 2012 Dec 24. doi: 10.3389/fgene.2012.00302
PMCID:
PMC3529400
17.
Silvia Galletti, Yvonne Nitschke, Anna M. Malavolti, Giulia Aquilano, Giacomo Faldella, Luigi Corvaglia, Frank Rutsch
JIMD Rep. 2011; 1: 23–27. Published online 2011 Jun 25. doi: 10.1007/8904_2011_11
PMCID:
PMC3509810
18.
Yvonne Nitschke, Geneviève Baujat, Ulrike Botschen, Tanja Wittkampf, Marcel du Moulin, Jacqueline Stella, Martine Le Merrer, Geneviève Guest, Karen Lambot, Marie-Frederique Tazarourte-Pinturier, Nicolas Chassaing, Olivier Roche, Ilse Feenstra, Karen Loechner, Charu Deshpande, Samuel J. Garber, Rashmi Chikarmane, Beat Steinmann, Tatevik Shahinyan, Loreto Martorell, Justin Davies, Wendy E. Smith, Stephen G. Kahler, Mignon McCulloch, Elizabeth Wraige, Lourdes Loidi, Wolfgang Höhne, Ludovic Martin, Smaïl Hadj-Rabia, Robert Terkeltaub, Frank Rutsch
Am J Hum Genet. 2012 Jan 13; 90(1): 25–39. doi: 10.1016/j.ajhg.2011.11.020
PMCID:
PMC3257960
19.
Varda Levy-Litan, Eli Hershkovitz, Luba Avizov, Neta Leventhal, Dani Bercovich, Vered Chalifa-Caspi, Esther Manor, Sophia Buriakovsky, Yair Hadad, James Goding, Ruti Parvari
Am J Hum Genet. 2010 Feb 12; 86(2): 273–278. doi: 10.1016/j.ajhg.2010.01.010
PMCID:
PMC2820183
20.
Bettina Lorenz-Depiereux, Dirk Schnabel, Dov Tiosano, Gabriele Häusler, Tim M. Strom
Am J Hum Genet. 2010 Feb 12; 86(2): 267–272. doi: 10.1016/j.ajhg.2010.01.006
PMCID:
PMC2820166

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