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Items: 14

1.
Hassan Vahidnezhad, Leila Youssefian, Nailah Harvey, Ali Reza Tavasoli, Amir Hossein Saeidian, Soheila Sotoudeh, Aida Varghaei, Hamidreza Mahmoudi, Parvin Mansouri, Nikoo Mozafari, Omid Zargari, Sirous Zeinali, Jouni Uitto
Hum Mutat.
Published in final edited form as: Hum Mutat. 2022 Dec; 43(12): 1706–1731. Published online 2022 Jul 29. doi: 10.1002/humu.24434
PMCID:
PMC9771971
2.
Girolamo MATTIOLI, Andrea DIOCIAIUTI, Sabrina ROSSI, Giovanna ZAMBRUNO, Marcello CARLUCCI, Elisa PISANESCHI, May EL HACHEM
Acta Derm Venereol. 2022; 102: 935. Published online 2022 May 10. doi: 10.2340/actadv.v102.935
PMCID:
PMC9631280
3.
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
4.
Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, Sasikarn Pakdeeto, Piangor Watcharakuldilok, Chatchay Prempunpong, Thipwimol Tim-Aroon, Chawintee Puttanapitak, Piyawan Wattanasoontornsakul, Thitiporn Junhasavasdikul, Parith Wongkittichote, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon
Front Genet. 2022; 13: 847150. Published online 2022 Apr 1. doi: 10.3389/fgene.2022.847150
PMCID:
PMC9010945
5.
Lucía Martínez-Santamaría, Rocío Maseda, María del Carmen de Arriba, Javier A. Membrilla, Alberto Iglesias Sigüenza, Javier Mascías, Marta García, Lucía Quintana, Isabel Esteban-Rodríguez, Carlos Pelayo Hernández-Fernández, Nuria Illera, Blanca Duarte, Sara Guerrero-Aspizúa, David T. Woodley, Marcela del Río, Raúl de Lucas, Fernando Larcher, María José Escámez
JAMA Dermatol. 2022 Apr; 158(4): 439–443. Published online 2022 Mar 2. doi: 10.1001/jamadermatol.2022.0112
PMCID:
PMC8892370
6.
Daniel Mosallaei, Michelle Hao, Richard J. Antaya, Brandon Levian, Andrew Kwong, Jon Cogan, Claire Hamilton, Agnes Schwieger-Briel, Calvin Tan, Xin Tang, David T. Woodley, Mei Chen
JAMA Dermatol. 2022 Apr; 158(4): 366–374. Published online 2022 Mar 2. doi: 10.1001/jamadermatol.2021.5992
PMCID:
PMC8892363
7.
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
8.
Andrew Kwong, Jon Cogan, Yingping Hou, Richard Antaya, Michelle Hao, Gene Kim, Vadim Lincoln, Qiuyang Chen, David T. Woodley, Mei Chen
Mol Ther. 2020 May 6; 28(5): 1327–1338. Published online 2020 Mar 17. doi: 10.1016/j.ymthe.2020.03.006
PMCID:
PMC7210719
9.
Timothy D. Hicks, Himanshu Singh, Michel Mikhael, Anita R. Shah
Case Rep Pediatr. 2018; 2018: 4548194. Published online 2018 Dec 20. doi: 10.1155/2018/4548194
PMCID:
PMC6317128
10.
Julian Trah, Christina Has, Ingrid Hausser, Heinz Kutzner, Konrad Reinshagen, Ingo Königs
Dermatol Ther (Heidelb) 2018 Jun; 8(2): 313–321. Published online 2018 May 18. doi: 10.1007/s13555-018-0237-2
PMCID:
PMC6002319
11.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm
Genet Med.
Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30
PMCID:
PMC4544753
12.
Hulya Gundesli, Beril Talim, Petek Korkusuz, Burcu Balci-Hayta, Sebahattin Cirak, Nurten A. Akarsu, Haluk Topaloglu, Pervin Dincer
Am J Hum Genet. 2010 Dec 10; 87(6): 834–841. doi: 10.1016/j.ajhg.2010.10.017
PMCID:
PMC2997373
13.
José M de Pereda, M Pilar Lillo, Arnoud Sonnenberg
EMBO J. 2009 Apr 22; 28(8): 1180–1190. Published online 2009 Feb 26. doi: 10.1038/emboj.2009.48
PMCID:
PMC2683700
14.
R Varki, S Sadowski, E Pfendner, J Uitto
J Med Genet. 2006 Aug; 43(8): 641–652. Published online 2006 Feb 10. doi: 10.1136/jmg.2005.039685
PMCID:
PMC2564586

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