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Items: 4

1.
Under-diagnosis of vector-borne diseases among individuals suspected of having Scrub Typhus in South Korea
Eun Jeong Won, Seong Hoon Kim, Kyeong Hwan Byeon, Chae-Hyeon Jeon, Seung-Ji Kang, Joo-Heon Park, Seung-Jung Kee, Hyun-Woo Choi
PLoS One. 2023; 18(6): e0286631. Published online 2023 Jun 2. doi: 10.1371/journal.pone.0286631
PMCID:
PMC10237470
AbstractArticlePDF–1.1M
2.
Characterizing the morbid genome of ciliopathies
Ranad Shaheen, Katarzyna Szymanska, Basudha Basu, Nisha Patel, Nour Ewida, Eissa Faqeih, Amal Al Hashem, Nada Derar, Hadeel Alsharif, Mohammed A. Aldahmesh, Anas M. Alazami, Mais Hashem, Niema Ibrahim, Firdous M. Abdulwahab, Rawda Sonbul, Hisham Alkuraya, Maha Alnemer, Saeed Al Tala, Muneera Al-Husain, Heba Morsy, Mohammed Zain Seidahmed, Neama Meriki, Mohammed Al-Owain, Saad AlShahwan, Brahim Tabarki, Mustafa A. Salih, Ciliopathy WorkingGroup, Tariq Faquih, Mohamed El-Kalioby, Marius Ueffing, Karsten Boldt, Clare V. Logan, David A. Parry, Nada Al Tassan, Dorota Monies, Andre Megarbane, Mohamed Abouelhoda, Anason Halees, Colin A. Johnson, Fowzan S. Alkuraya
Genome Biol. 2016; 17: 242. Published online 2016 Nov 28. doi: 10.1186/s13059-016-1099-5
PMCID:
PMC5126998
AbstractArticlePDF–1.6M
3.
Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M. Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski
Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167(9): 2132–2137. Published online 2015 Apr 6. doi: 10.1002/ajmg.a.37092
PMCID:
PMC4545386
AbstractArticlePDF–657K
4.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, Patrizia Accorsi, Emanuela Avola, Enrico Bertini, Renato Borgatti, Romina Romaniello, Serdar Ceylaner, Giangennaro Coppola, Stefano D’Arrigo, Lucio Giordano, Andreas R. Janecke, Mario Lituania, Kathrin Ludwig, Loreto Martorell, Tommaso Mazza, Sylvie Odent, Lorenzo Pinelli, Pilar Poo, Margherita Santucci, Sabrina Signorini, Alessandro Simonati, Ronen Spiegel, Franco Stanzial, Maja Steinlin, Brahim Tabarki, Nicole I. Wolf, Federica Zibordi, Eugen Boltshauser, Enza Maria Valente
Hum Genet. 2015; 134(1): 123–126. Published online 2014 Nov 19. doi: 10.1007/s00439-014-1508-3
PMCID:
PMC4282684
AbstractArticlePDF–354K

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