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Links from MedGen

Items: 1 to 20 of 300

1.
A Verloes, S Aymé, D Gambarelli, M Gonzales, M Le Merrer, N Mulliez, N Philip, J Roume
J Med Genet. 1991 May; 28(5): 297–303. doi: 10.1136/jmg.28.5.297
PMCID:
PMC1016846
2.
Dwight R Cordero, Claude Bendavid, Alan L Shanske, Bassem R Haddad, Maximilian Muenke.
Eur J Med Genet.
Published in final edited form as: Eur J Med Genet. 2008; 51(2): 106–112. Published online 2007 Sep 15. doi: 10.1016/j.ejmg.2007.08.004
PMCID:
PMC2441840
3.
Job A.J. Verdonschot, Debby M.E.I. Hellebrekers, Vanessa P.M. van Empel, Malou Heijligers, Sonja de Munnik, Edith Coonen, Jos C.M.F. Dreesen, Arthur van den Wijngaard, Han G. Brunner, Masoud Zamani Esteki, Stephane R.B. Heymans, Christine E.M. de Die-Smulders, Aimée D.C. Paulussen
Circ Genom Precis Med. 2024 Apr; 17(2): e004416. Published online 2024 Mar 22. doi: 10.1161/CIRCGEN.123.004416
PMCID:
PMC11019983
4.
Sophia M. Bous, Benjamin D. Solomon, Luitgard Graul-Neumann, Heidemarie Neitzel, Emily E. Hardisty, Maximilian Muenke
Clin Dysmorphol.
Published in final edited form as: Clin Dysmorphol. 2012 Oct; 21(4): 183–190. doi: 10.1097/MCD.0b013e3283551fd0
PMCID:
PMC4131985
5.
Yilin Kang, Jussi Hepojoki, Rocio Sartori Maldonado, Takayuki Mito, Mügen Terzioglu, Tuula Manninen, Ravi Kant, Sachin Singh, Alaa Othman, Rohit Verma, Johanna Uusimaa, Kirmo Wartiovaara, Lauri Kareinen, Nicola Zamboni, Tuula Anneli Nyman, Anders Paetau, Anja Kipar, Olli Vapalahti, Anu Suomalainen
Nature. 2024; 628(8009): 844–853. Published online 2024 Apr 3. doi: 10.1038/s41586-024-07260-z
PMCID:
PMC11041766
6.
Khurram Liaqat, Thashi Bharadwaj, Khadim Shah, Abdul Nasir, Anushree Acharya, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal
Clin Genet.
Published in final edited form as: Clin Genet. 2023 Oct; 104(4): 499–501. Published online 2023 Jun 13. doi: 10.1111/cge.14390
PMCID:
PMC11041622
7.
Xiaohong Yan, Jing Wang, Wen Yang, Linke Li, Tian Shen, Jia Geng, Qian Zhang, Mingjun Zhong, Wenyu Xiong, Fengxiao Bu, Yu Lu, Yu Zhao, Jing Cheng, Huijun Yuan
J Med Genet. 2024 May; 61(5): 459–468. Published online 2024 Jan 31. doi: 10.1136/jmg-2023-109579
PMCID:
PMC11041606
8.
Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock
J Med Genet. 2024 May; 61(5): 490–501. Published online 2024 Jan 31. doi: 10.1136/jmg-2023-109531
PMCID:
PMC11041601
9.
Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff
J Med Genet. 2024 May; 61(5): 469–476. Published online 2024 Mar 8. doi: 10.1136/jmg-2023-109646
PMCID:
PMC11041597
10.
Yuanyuan Li, Yuxue Chen, Yang Sun, Shouxin Li, Lingli Dong, Zongzhe Li, Guifen Shen
BMC Med Genomics. 2024; 17: 104. Published online 2024 Apr 24. doi: 10.1186/s12920-024-01877-9
PMCID:
PMC11040914
11.
Xueting Cheng, Jiahuan Chen, Xueying Yang, Han Chan, Xia Yang, Jia Jiao, Anshuo Wang, Gaofu Zhang, Xuelan Chen, Xiaoqin Li, Mo Wang, Baohui Yang, Haiping Yang, Qiu Li
Ital J Pediatr. 2024; 50: 85. Published online 2024 Apr 23. doi: 10.1186/s13052-024-01655-4
PMCID:
PMC11040871
12.
Xilong Zhang, Nadira Nurxat, Jueraiti Aili, Yakupu Yasen, Qichen Wang, Qian Liu
BMC Microbiol. 2024; 24: 138. Published online 2024 Apr 24. doi: 10.1186/s12866-024-03281-w
PMCID:
PMC11040800
13.
Yukiko Takeda, Masahiro Ueki, Junpei Matsuhiro, Erik Walinda, Takayuki Tanaka, Masafumi Yamada, Hiroaki Fujita, Shunichiro Takezaki, Ichiro Kobayashi, Sakura Tamaki, Sanae Nagata, Noriko Miyake, Naomichi Matsumoto, Mitsujiro Osawa, Takahiro Yasumi, Toshio Heike, Fumiaki Ohtake, Megumu K. Saito, Junya Toguchida, Junko Takita, Tadashi Ariga, Kazuhiro Iwai
J Exp Med. 2024 Jun 3; 221(6): e20231941. Published online 2024 Apr 23. doi: 10.1084/jem.20231941
PMCID:
PMC11040501
14.
Emily Zhao, Miles Bomback, Atlas Khan, Sarath Krishna Murthy, David Solowiejczyk, Neeta L. Vora, Kelly L. Gilmore, Jessica L. Giordano, Ronald J. Wapner, Simone Sanna-Cherchi, Alex Lyford, Angie C. Jelin, Ali G. Gharavi, Thomas Hays
Prenat Diagn.
Published in final edited form as: Prenat Diagn. 2024 Mar; 44(3): 343–351. Published online 2024 Jan 29. doi: 10.1002/pd.6527
PMCID:
PMC11040453
15.
Giovanni Corso, Elena Marino, Cristina Zanzottera, Carla Oliveira, Loris Bernard, Debora Macis, Joana Figueiredo, Joana Pereira, Patrícia Carneiro, Giulia Massari, Massimo Barberis, Alessandra Margherita De Scalzi, Sergio Vincenzo Taormina, Elham Sajjadi, Claudia Sangalli, Sara Gandini, Oriana D’Ecclesiis, Cristina Maria Trovato, Anna Rotili, Filippo Pesapane, Luca Nicosia, Carlo La Vecchia, Viviana Galimberti, Elena Guerini-Rocco, Bernardo Bonanni, Paolo Veronesi
JAMA Netw Open. 2024 Apr; 7(4): e247862. Published online 2024 Apr 23. doi: 10.1001/jamanetworkopen.2024.7862
PMCID:
PMC11040411
16.
David Ortega-Alarcon, Rafael Claveria-Gimeno, Sonia Vega, Ladan Kalani, Olga C Jorge-Torres, Manel Esteller, Juan Ausio, Olga Abian, Adrian Velazquez-Campoy
Nucleic Acids Res. 2024 Apr 24; 52(7): 3636–3653. Published online 2024 Feb 7. doi: 10.1093/nar/gkae051
PMCID:
PMC11039998
17.
Yumei Zhou, Xianfeng Chen, Jun Chen, Conner D. Kendrick, Ramesh K. Ramanathan, Rondell P. Graham, Kimberlee F. Kossick, Lisa A. Boardman, Michael T. Barrett
Sci Rep. 2024; 14: 9368. Published online 2024 Apr 23. doi: 10.1038/s41598-024-59398-5
PMCID:
PMC11039710
18.
Charles H. Schleifer, Kathleen P. O’Hora, Hoki Fung, Jennifer Xu, Taylor-Ann Robinson, Angela S. Wu, Leila Kushan-Wells, Amy Lin, Christopher R. K. Ching, Carrie E. Bearden
Neuropsychopharmacology. 2024 May; 49(6): 1024–1032. Published online 2024 Mar 2. doi: 10.1038/s41386-024-01832-3
PMCID:
PMC11039652
19.
Matthias Przyklenk, Shreya Karmacharya, Debora Bonasera, Arthur-Lauri Pasanen-Zentz, Stanislav Kmoch, Mats Paulsson, Raimund Wagener, Gianmaria Liccardi, Alvise Schiavinato
Sci Rep. 2024; 14: 9321. Published online 2024 Apr 23. doi: 10.1038/s41598-024-59901-y
PMCID:
PMC11039612
20.
Matteo Lampitto, Marco Barchi
Cell Mol Life Sci. 2024 Dec; 81(1): 194. Published online 2024 Apr 23. doi: 10.1007/s00018-024-05216-0
PMCID:
PMC11039559

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