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Items: 1 to 20 of 74

1.
Arnaud Jacquier, Shams Ribault, Michel Mendes, Nicolas Lacoste, Valérie Risson, Julien Carras, Philippe Latour, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Laurent Schaeffer
Hum Mutat. 2022 Dec; 43(12): 1898–1908. Published online 2022 Aug 18. doi: 10.1002/humu.24445
PMCID:
PMC10087860
2.
Jinglei Zheng, Haochen Liu, Miao Yu, Bichen Lin, Kai Sun, Hangbo Liu, Hailan Feng, Yang Liu, Dong Han
Int J Mol Sci. 2023 Jan; 24(2): 1648. Published online 2023 Jan 13. doi: 10.3390/ijms24021648
PMCID:
PMC9860601
3.
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea
J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652
PMCID:
PMC8842757
4.
Anita Fekonja, Andrej Čretnik, Iztok Takač
Angle Orthod. 2014 Sep; 84(5): 810–814. Published online 2014 Apr 1. doi: 10.2319/112813-876.1
PMCID:
PMC8641280
5.
Natalie Frede, Jessica Rojas-Restrepo, Andrés Caballero Garcia de Oteyza, Mary Buchta, Katrin Hübscher, Laura Gámez-Díaz, Michele Proietti, Shiva Saghafi, Zahra Chavoshzadeh, Pere Soler-Palacin, Nermeen Galal, Mehdi Adeli, Juan Carlos Aldave-Becerra, Moudjahed Saleh Al-Ddafari, Ömür Ardenyz, T. Prescott Atkinson, Fulya Bektas Kut, Fatih Çelmeli, Helen Rees, Sara S. Kilic, Ilija Kirovski, Christoph Klein, Robin Kobbe, Anne-Sophie Korganow, Desa Lilic, Peter Lunt, Niten Makwana, Ayse Metin, Tuba Turul Özgür, Ayse Akman Karakas, Suranjith Seneviratne, Roya Sherkat, Ana Berta Sousa, Ekrem Unal, Turkan Patiroglu, Volker Wahn, Horst von Bernuth, Margo Whiteford, Rainer Doffinger, Zineb Jouhadi, Bodo Grimbacher
J Clin Immunol. 2021; 41(8): 1804–1838. Published online 2021 Aug 14. doi: 10.1007/s10875-021-01086-4
PMCID:
PMC8604890
6.
Rasha N. Alotaibi, Brian J. Howe, Jonathan M. Chernus, Nandita Mukhopadhyay, Carla Sanchez, Frederic W. B. Deleyiannis, Katherine Neiswanger, Carmencita Padilla, Fernando A. Poletta, Ieda M. Orioli, Carmen J. Buxó, Jacqueline T. Hecht, George L. Wehby, Ross E. Long, Alexandre R. Vieira, Seth M. Weinberg, John R. Shaffer, Lina M. Moreno Uribe, Mary L. Marazita
BMC Oral Health. 2021; 21: 377. Published online 2021 Jul 26. doi: 10.1186/s12903-021-01670-5
PMCID:
PMC8311973
7.
Song Xia, Zhong Liu, Huifang Yan, Kun Chang, Yuguang Sun, Jingmin Wang, Wenbin Shen
Medicine (Baltimore) 2021 Jun 18; 100(24): e26307. Published online 2021 Jun 18. doi: 10.1097/MD.0000000000026307
PMCID:
PMC8213278
8.
Liang Han, Yanjing Huang, Yuan Nie, Jing Li, Gang Chen, Shenghao Tu, Pan Shen, Chao Chen
Medicine (Baltimore) 2021 Mar 19; 100(11): e25163. Published online 2021 Mar 19. doi: 10.1097/MD.0000000000025163
PMCID:
PMC7982204
9.
刘 建, 王 宪娥, 吕 达, 乔 敏, 张 立, 孟 焕新, 徐 莉, 毛 铭馨
Beijing Da Xue Xue Bao Yi Xue Ban. 2021 Feb 18; 53(1): 16–23. Chinese. Published online 2020 Dec 9. doi: 10.19723/j.issn.1671-167X.2021.01.004
PMCID:
PMC7867985
10.
吴 君怡, 余 淼, 孙 仕晨, 樊 壮壮, 郑 静蕾, 张 刘陶, 冯 海兰, 刘 洋, 韩 冬
Beijing Da Xue Xue Bao Yi Xue Ban. 2021 Feb 18; 53(1): 24–33. Chinese. Published online 2020 Dec 9. doi: 10.19723/j.issn.1671-167X.2021.01.005
PMCID:
PMC7867966
11.
Harrison Pantera, Bo Hu, Daniel Moiseev, Chris Dunham, Jibraan Rashid, John J Moran, Kathleen Krentz, C Dustin Rubinstein, Seongsik Won, Jun Li, John Svaren
Hum Mol Genet. 2020 Jun 27; 29(10): 1689–1699. Published online 2020 Apr 30. doi: 10.1093/hmg/ddaa082
PMCID:
PMC7322568
12.
Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader, Alma Osmanovic
BMC Med Genet. 2020; 21: 45. Published online 2020 Mar 2. doi: 10.1186/s12881-020-0984-7
PMCID:
PMC7050135
13.
Andrea Cortese, Janel E. Wilcox, James M. Polke, Roy Poh, Mariola Skorupinska, Alexander M. Rossor, Matilde Laura, Pedro J. Tomaselli, Henry Houlden, Michael E. Shy, Mary M. Reilly
Neurology. 2020 Jan 7; 94(1): e51–e61. doi: 10.1212/WNL.0000000000008672
Correction in:
Neurology. 2020 Aug 11
Correction in:
Neurology. 2022 Apr 4
PMCID:
PMC7011687
14.
Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider
Orphanet J Rare Dis. 2020; 15: 7. Published online 2020 Jan 10. doi: 10.1186/s13023-019-1288-x
PMCID:
PMC6954509
15.
María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)
Orphanet J Rare Dis. 2019; 14: 281. Published online 2019 Dec 3. doi: 10.1186/s13023-019-1251-x
PMCID:
PMC6892193
16.
Chandni V. Pal, Tanya N. Eble, Rachel D. Burnside, Weimin Bi, Ankita Patel, Luis M. Franco
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2014 May-Jun; 57(6): 264–266. Published online 2014 Mar 15. doi: 10.1016/j.ejmg.2014.03.001
PMCID:
PMC6859793
17.
Sooji Choi, Janice S. Lee, Carol W. Bassim, Harvey Kushner, Ann G. Carr, Pamela J. Gardner, Laura A. Harney, Kris Ann P. Schultz, Douglas R. Stewart
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2019 Sep; 179(9): 1820–1825. Published online 2019 Jul 16. doi: 10.1002/ajmg.a.61292
PMCID:
PMC6692906
18.
Amina Al Yassin, Felice D’Arco, Matías Morín, Waheeda Pagarkar, Katherine Harrop-Griffiths, Azhar Shaida, Elena Fernández, Tom Cullup, Bianca De-Souza, Miguel Angel Moreno-Pelayo, Maria Bitner-Glindzicz
Genes (Basel) 2019 Jul; 10(7): 529. Published online 2019 Jul 12. doi: 10.3390/genes10070529
PMCID:
PMC6678228
19.
Delfina Larrea, Marta Pera, Adriano Gonnelli, Rubén Quintana–Cabrera, H Orhan Akman, Cristina Guardia-Laguarta, Kevin R Velasco, Estela Area-Gomez, Federica Dal Bello, Diego De Stefani, Rita Horvath, Michael E Shy, Eric A Schon, Marta Giacomello
Hum Mol Genet. 2019 Jun 1; 28(11): 1782–1800. Published online 2019 Jan 11. doi: 10.1093/hmg/ddz008
PMCID:
PMC6522073
20.
Daniela Adorno-Farias, Ana Ortega-Pinto, Paulina Gajardo, Ana Salazar, Irene Morales-Bozo, Fabiola Werlinger, Sandra Rojas-Flores, Alfredo Molina-Berríos, Sonia Echeverría-López, José Jara-Sandoval, Lilian Jara, Blanca Urzúa
J Appl Oral Sci. 2019; 27: e20180359. Published online 2019 Apr 1. doi: 10.1590/1678-7757-2018-0359
PMCID:
PMC6442841

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