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Items: 1 to 20 of 44

1.
Christiane Kuschal, Elena Botta, Donata Orioli, John J. Digiovanna, Sara Seneca, Kathelijn Keymolen, Deborah Tamura, Elizabeth Heller, Sikandar G. Khan, Giuseppina Caligiuri, Manuela Lanzafame, Tiziana Nardo, Roberta Ricotti, Fiorenzo A. Peverali, Robert Stephens, Yongmei Zhao, Alan R. Lehmann, Laura Baranello, David Levens, Kenneth H. Kraemer, Miria Stefanini
Am J Hum Genet. 2016 Apr 7; 98(4): 627–642. Published online 2016 Mar 17. doi: 10.1016/j.ajhg.2016.02.008
PMCID:
PMC4833217
2.
Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel
Orphanet J Rare Dis. 2016; 11: 26. Published online 2016 Mar 22. doi: 10.1186/s13023-016-0408-0
PMCID:
PMC4804614
3.
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana M. S. Morley, Rongxuan Lim, Sally Turner, Tanya Henshaw, Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G. J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert P. E. Sarkany, Alan R. Lehmann
Proc Natl Acad Sci U S A. 2016 Mar 1; 113(9): E1236–E1245. Published online 2016 Feb 16. doi: 10.1073/pnas.1519444113
PMCID:
PMC4780618
4.
Ricardo Correa, Paraskevi Salpea, Constantine Stratakis
Eur J Endocrinol.
Published in final edited form as: Eur J Endocrinol. 2015 Oct; 173(4): M85–M97. Published online 2015 Jun 30. doi: 10.1530/EJE-15-0209
PMCID:
PMC4553126
5.
Elizabeth R. Heller, Sikandar G. Khan, Christiane Kuschal, Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer
J Invest Dermatol.
Published in final edited form as: J Invest Dermatol. 2015 Mar; 135(3): 734–741. Published online 2014 Oct 7. doi: 10.1038/jid.2014.440
PMCID:
PMC4530629
6.
I. Rapin, Y. Lindenbaum, D.W. Dickson, K.H. Kraemer, J.H. Robbins
Neurology.
Published in final edited form as: Neurology. 2000 Nov 28; 55(10): 1442–1449.
PMCID:
PMC4459578
7.
Steffen Schubert, Janin Lehmann, Limor Kalfon, Hanoch Slor, Tzipora C Falik-Zaccai, Steffen Emmert
Eur J Hum Genet. 2014 Jul; 22(7) Published online 2013 Oct 9. doi: 10.1038/ejhg.2013.233
PMCID:
PMC4060106
8.
Mariem Ben Rekaya, Nadia Laroussi, Olfa Messaoud, Mariem Jones, Manel Jerbi, Chokri Naouali, Yosra Bouyacoub, Mariem Chargui, Rym Kefi, Becima Fazaa, Mohamed Samir Boubaker, Hamouda Boussen, Mourad Mokni, Sonia Abdelhak, Mohamed Zghal, Aida Khaled, Houda Yacoub-Youssef
Biomed Res Int. 2014; 2014: 256245. Published online 2014 May 4. doi: 10.1155/2014/256245
PMCID:
PMC4024419
9.
Jin-Ping Lai, Yen-Chun Liu, Meghna Alimchandani, Qingyan Liu, Phyu Phyu Aung, Kant Matsuda, Chyi-Chia R Lee, Maria Tsokos, Stephen Hewitt, Elisabeth J Rushing, Deborah Tamura, David L Levens, John J DiGiovanna, Howard A Fine, Nicholas Patronas, Sikandar G Khan, David E Kleiner, J Carl Oberholtzer, Martha M Quezado, Kenneth H Kraemer
Acta Neuropathol Commun. 2013; 1: 4. Published online 2013 May 8. doi: 10.1186/2051-5960-1-4
PMCID:
PMC3776212
10.
Lucas M. Viana, Mohammad Seyyedi, Carmen C. Brewer, Christopher Zalewski, John J. DiGiovanna, Deborah Tamura, Mariam Totonchy, Kenneth H. Kraemer, Joseph B. Nadol, Jr
Otol Neurotol.
Published in final edited form as: Otol Neurotol. 2013 Sep; 34(7): 1230–1236. doi: 10.1097/MAO.0b013e31829795e9
PMCID:
PMC3744623
11.
Xiaolong Zhou, Sikandar G Khan, Deborah Tamura, Takahiro Ueda, Jennifer Boyle, Emmanuel Compe, Jean-Marc Egly, John J DiGiovanna, Kenneth H Kraemer
Eur J Hum Genet. 2013 Aug; 21(8): 831–837. Published online 2012 Dec 12. doi: 10.1038/ejhg.2012.246
PMCID:
PMC3722669
12.
Brian P Brooks, Amy H Thompson, Rachel J Bishop, Janine A Clayton, Chi-Chao Chan, Ekaterini T Tsilou, Wadih M Zein, Deborah Tamura, Sikandar G. Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, Kyoko Imoto, Hiroki Inui, Shin-Ichi Moriwaki, Steffen Emmert, Nicholas T. Iliff, Porcia Bradford, John J. DiGiovanna, Kenneth H Kraemer
Ophthalmology.
Published in final edited form as: Ophthalmology. 2013 Jul; 120(7): 1324–1336. Published online 2013 Apr 16. doi: 10.1016/j.ophtha.2012.12.044
PMCID:
PMC3702678
13.
Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz, Chaowan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F. Wing, Susan O. Lewin, Lucinda Carr, Tao-Sheng Li, Koh-ichiro Yoshiura, Atsushi Utani, Akiyoshi Hirano, Shunichi Yamashita, Danielle Greenblatt, Tiziana Nardo, Miria Stefanini, David McGibbon, Robert Sarkany, Hiva Fassihi, Yoshito Takahashi, Yuji Nagayama, Norisato Mitsutake, Alan R. Lehmann, Tomoo Ogi
Am J Hum Genet. 2013 May 2; 92(5): 807–819. doi: 10.1016/j.ajhg.2013.04.007
PMCID:
PMC3644632
14.
Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker, Burak Derkunt, Yan Su, Anja Raams, Juan P. Trujillo, Jordi Minguillón, María J. Ramírez, Roser Pujol, José A. Casado, Rocío Baños, Paula Rio, Kerstin Knies, Sheila Zúñiga, Javier Benítez, Juan A. Bueren, Nicolaas G.J. Jaspers, Orlando D. Schärer, Johan P. de Winter, Detlev Schindler, Jordi Surrallés
Am J Hum Genet. 2013 May 2; 92(5): 800–806. doi: 10.1016/j.ajhg.2013.04.002
PMCID:
PMC3644630
15.
Kyoko Imoto, Carine Nadem, Shin-Ichi Moriwaki, Chikako Nishigori, Kyu-Seon Oh, Sikandar G. Khan, Alisa M. Goldstein, Kenneth H. Kraemer
J Dermatol Sci.
Published in final edited form as: J Dermatol Sci. 2013 Feb; 69(2): 175–176. Published online 2012 Nov 9. doi: 10.1016/j.jdermsci.2012.10.008
PMCID:
PMC3570715
16.
Mariam B. Totonchy, Deborah Tamura, Matthew S. Pantell, Christopher Zalewski, Porcia T. Bradford, Saumil N. Merchant, Joseph Nadol, Sikandar G. Khan, Raphael Schiffmann, Tyler Mark Pierson, Edythe Wiggs, Andrew J. Griffith, John J. DiGiovanna, Kenneth H. Kraemer, Carmen C. Brewer
Brain. 2013 Jan; 136(1): 194–208. Published online 2013 Jan 28. doi: 10.1093/brain/aws317
PMCID:
PMC3562077
17.
Deborah Tamura, Sikandar G Khan, Melissa Merideth, John J DiGiovanna, Margaret A Tucker, Alisa M Goldstein, Kyu-Seon Oh, Takahiro Ueda, Jennifer Boyle, Mansi Sarihan, Kenneth H Kraemer
Eur J Hum Genet. 2012 Dec; 20(12): 1308–1310. Published online 2012 May 23. doi: 10.1038/ejhg.2012.90
PMCID:
PMC3499748
18.
Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer
J Invest Dermatol.
Published in final edited form as: J Invest Dermatol. 2010 Jun; 130(6): 1491–1493. doi: 10.1038/jid.2010.76
PMCID:
PMC3486739
19.
Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John J. DiGiovanna, Kenneth H. Kraemer
Hum Mutat.
Published in final edited form as: Hum Mutat. 2008 Oct; 29(10): 1194–1208. doi: 10.1002/humu.20768
PMCID:
PMC3477783
20.
Dr. Stéphanie Christen-Zaech, Dr. Kyoko Imoto, Dr. Sikandar G. Khan, Dr. Kyu-Seon Oh, Ms. Deborah Tamura, Dr. John J. DiGiovanna, Dr. Jennifer Boyle, Dr. Nickolas J. Patronas, Dr. Raphael Schiffmann, Dr. Kenneth H. Kraemer, Dr. Amy S. Paller
Arch Dermatol.
Published in final edited form as: Arch Dermatol. 2009 Nov; 145(11): 1285–1291. doi: 10.1001/archdermatol.2009.279
PMCID:
PMC3472955

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