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Items: 1 to 20 of 81

1.
Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212
PMCID:
PMC10742884
2.
Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong
J Clin Res Pediatr Endocrinol. 2023 Dec; 15(4): 438–443. Published online 2023 Nov 22. doi: 10.4274/jcrpe.galenos.2022.2021-12-24
PMCID:
PMC10683535
3.
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
Mol Genet Genomic Med. 2023 Apr; 11(4): e2127. Published online 2022 Dec 23. doi: 10.1002/mgg3.2127
PMCID:
PMC10094073
4.
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk
Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143
PMCID:
PMC9545274
5.
Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez, Guiomar Perez de Nanclares
Genes (Basel) 2020 Dec; 11(12): 1461. Published online 2020 Dec 5. doi: 10.3390/genes11121461
PMCID:
PMC7762056
6.
In Kyung Lee, Han Hyuk Lim, Yoo-Mi Kim
Yonsei Med J. 2020 Nov 1; 61(11): 981–985. Published online 2020 Oct 22. doi: 10.3349/ymj.2020.61.11.981
PMCID:
PMC7593105
7.
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
BMC Med Genomics. 2018; 11: 124. Published online 2018 Dec 27. doi: 10.1186/s12920-018-0441-z
PMCID:
PMC6307281
8.
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan
Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001
PMCID:
PMC6288279
9.
Manuela Priolo, Denny Schanze, Katrin Tatton‐Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapia, Sally Davies, Nataliya Di Donato, Nursel H. Elcioglu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann‐Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda M. Mirzaa, Tara Montgomery, Dorothee Neubauer, Thomas E. Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Maria Valdez, Arie Van Haeringen, Johanna M. Van Hagen, Marcela Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. Hennekam
Hum Mutat. 2018 Sep; 39(9): 1226–1237. Published online 2018 Jun 25. doi: 10.1002/humu.23563
PMCID:
PMC6175110
10.
Tetsushi Hamaguchi, Yushi Hirota, Takehito Takeuchi, Yasushi Nakagawa, Atsuko Matsuoka, Masaaki Matsumoto, Hiroyuki Awano, Kazumoto Iijima, Pei Chieng Cha, Wataru Satake, Tatsushi Toda, Wataru Ogawa
J Diabetes Investig. 2018 Sep; 9(5): 1224–1227. Published online 2018 Mar 25. doi: 10.1111/jdi.12825
PMCID:
PMC6123033
11.
Peter K. Rogan, James R. Seip, Daniel J. Driscoll, Peter R. Papenhausen, Virginia P. Johnson, Salmo Raskin, Amy L. Woodward, Merlin G. Butler
Am J Med Genet.
Published in final edited form as: Am J Med Genet. 1996 Mar 1; 62(1): 10–15. doi: 10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#
PMCID:
PMC5986579
12.
C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake
BMC Med Genomics. 2018; 11: 44. Published online 2018 May 8. doi: 10.1186/s12920-018-0366-6
PMCID:
PMC5941489
13.
R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam, V. H. W. Dissanayake
BMC Pediatr. 2018; 18: 4. Published online 2018 Jan 8. doi: 10.1186/s12887-017-0980-z
PMCID:
PMC5759277
14.
Dayna Morel Swols, Joseph Foster, II, Mustafa Tekin
Orphanet J Rare Dis. 2017; 12: 183. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0736-8
PMCID:
PMC5735576
15.
Mingrui Jia, Ranran Shi, Xuli Zhao, Zhijian Fu, Zhijing Bai, Tao Sun, Xuejun Zhao, Wenbo Wang, Chao Xu, Fang Yan
Medicine (Baltimore) 2017 Sep; 96(39): e7783. Published online 2017 Sep 29. doi: 10.1097/MD.0000000000007783
PMCID:
PMC5626253
16.
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Clin Epigenetics. 2017; 9: 52. Published online 2017 May 15. doi: 10.1186/s13148-017-0350-6
PMCID:
PMC5433143
17.
Melikşah Keskin, Nursel Muratoğlu Şahin, Erdal Kurnaz, Elvan Bayramoğlu, Şenay Savaş Erdeve, Zehra Aycan, Semra Çetinkaya
J Clin Res Pediatr Endocrinol. 2017 Mar; 9(1): 91–94. Published online 2017 Mar 1. doi: 10.4274/jcrpe.3238
PMCID:
PMC5363173
18.
Merlin G. Butler, Agnes B. Fogo, David A. Fuchs, Francis S. Collins, Viathilingam G. Dev, John A. Phillips, III
Am J Med Genet.
Published in final edited form as: Am J Med Genet. 1988 Jan; 29(1): 149–154. doi: 10.1002/ajmg.1320290119
PMCID:
PMC5083070
19.
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra
Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253
PMCID:
PMC4538199
20.
Alicia Cervantes, Constanza García-Delgado, Fernando Fernández-Ramírez, Carolina Galaz-Montoya, Ariadna Berenice Morales-Jiménez, Karem Nieto-Martínez, Laura Gómez-Laguna, Judith Villa-Morales, Mónica Quintana-Palma, Jaime Berúmen, Susana Kofman, Verónica F Morán-Barroso
BMC Med Genomics. 2014; 7: 55. Published online 2014 Sep 15. doi: 10.1186/1755-8794-7-55
PMCID:
PMC4170088

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