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Volume 15;  2014

Case Reports

Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti, Marco Ritelli, Paolo Maiorca, Stefano Quinzani, Federica Verzeletti, Stefano Possenti, Marina Colombi, Giovanni Cancarini
BMC Med Genet. 2014; 15: 3. Published online Jan 7, 2014. doi: 10.1186/1471-2350-15-3
PMCID:
PMC3890613
Helena Campos Fabbri, Juliana Gabriel Ribeiro de Andrade, Fernanda Caroline Soardi, Flávia Leme de Calais, Reginaldo José Petroli, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior, Maricilda Palandi de Mello
BMC Med Genet. 2014; 15: 7. Published online Jan 10, 2014. doi: 10.1186/1471-2350-15-7
PMCID:
PMC3900668
Bülent Kara, Özgecan Ayhan, Gülden Gökçay, Nurdan Başboğaoğlu, Aslıhan Tolun
BMC Med Genet. 2014; 15: 10. Published online Jan 16, 2014. doi: 10.1186/1471-2350-15-10
PMCID:
PMC3898029
Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez, Michael B Gorin
BMC Med Genet. 2014; 15: 11. Published online Jan 20, 2014. doi: 10.1186/1471-2350-15-11
PMCID:
PMC3905103
Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria, Daniela Melis
BMC Med Genet. 2014; 15: 15. Published online Jan 28, 2014. doi: 10.1186/1471-2350-15-15
PMCID:
PMC3925134
Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara, Maurizio de Martino
BMC Med Genet. 2014; 15: 16. Published online Jan 30, 2014. doi: 10.1186/1471-2350-15-16
PMCID:
PMC3916307
Danijela Krgovic, Ana Blatnik, Ante Burmas, Andreja Zagorac, Nadja Kokalj Vokac
BMC Med Genet. 2014; 15: 21. Published online Feb 11, 2014. doi: 10.1186/1471-2350-15-21
PMCID:
PMC3923007
Sara Missaglia, Eugenia Ribeiro Valadares, Laura Moro, Eleonora Druve Tavares Faguntes, Raquel quintão Roque, Bruno Giardina, Daniela Tavian
BMC Med Genet. 2014; 15: 32. Published online Mar 14, 2014. doi: 10.1186/1471-2350-15-32
PMCID:
PMC3995635
Teresa Tavassoli, Alexander Kolevzon, A Ting Wang, Jocelyn Curchack-Lichtin, Danielle Halpern, Lily Schwartz, Sarah Soffes, Lauren Bush, David Grodberg, Guiqing Cai, Joseph D Buxbaum
BMC Med Genet. 2014; 15: 35. Published online Mar 20, 2014. doi: 10.1186/1471-2350-15-35
PMCID:
PMC3994485
Hugh J McMillan, Jeremy Schwartzentruber, Amanda Smith, Suzie Lee, Pranesh Chakraborty, Dennis E Bulman, Chandree L Beaulieu, Jacek Majewski, Kym M Boycott, Michael T Geraghty
BMC Med Genet. 2014; 15: 36. Published online Mar 26, 2014. doi: 10.1186/1471-2350-15-36
PMCID:
PMC3973608
Loretta Racis, Eugenia Storti, Maura Pugliatti, Virgilio Agnetti, Alessandra Tessa, Filippo M Santorelli
BMC Med Genet. 2014; 15: 39. Published online Apr 1, 2014. doi: 10.1186/1471-2350-15-39
PMCID:
PMC3974227

Reviewer Acknowledgement

Timothy R Sands
BMC Med Genet. 2014; 15: 20. Published online Jan 30, 2014. doi: 10.1186/1471-2350-15-20
PMCID:
PMC3906885

Technical Advance

Kendall W Cradic, Stephen J Murphy, Travis M Drucker, Robert A Sikkink, Norman L Eberhardt, Claudia Neuhauser, George Vasmatzis, Stefan KG Grebe
BMC Med Genet. 2014; 15: 19. Published online Feb 6, 2014. doi: 10.1186/1471-2350-15-19
PMCID:
PMC3930533

Research Articles

Emilia Cirillo, Giuliana Giardino, Vera Gallo, Pamela Puliafito, Chiara Azzari, Rosa Bacchetta, Fabio Cardinale, Maria Pia Cicalese, Rita Consolini, Silvana Martino, Baldassarre Martire, Cristina Molinatto, Alessandro Plebani, Gioacchino Scarano, Annarosa Soresina, Caterina Cancrini, Paolo Rossi, Maria Cristina Digilio, Claudio Pignata
BMC Med Genet. 2014; 15: 1. Published online Jan 2, 2014. doi: 10.1186/1471-2350-15-1
PMCID:
PMC3893549
Wei Xu, Sarah Cohen-Woods, Qian Chen, Abdul Noor, Jo Knight, Georgina Hosang, Sagar V Parikh, Vincenzo De Luca, Federica Tozzi, Pierandrea Muglia, Julia Forte, Andrew McQuillin, Pingzhao Hu, Hugh MD Gurling, James L Kennedy, Peter McGuffin, Anne Farmer, John Strauss, John B Vincent
BMC Med Genet. 2014; 15: 2. Published online Jan 4, 2014. doi: 10.1186/1471-2350-15-2
PMCID:
PMC3901032
Yasushi Horimasu, Noboru Hattori, Nobuhisa Ishikawa, Sonosuke Tanaka, Francesco Bonella, Shinichiro Ohshimo, Josune Guzman, Ulrich Costabel, Nobuoki Kohno
BMC Med Genet. 2014; 15: 4. Published online Jan 8, 2014. doi: 10.1186/1471-2350-15-4
PMCID:
PMC3893448
Danielle Carpenter, Carmen Taype, Jon Goulding, Mike Levin, Brian Eley, Suzanne Anderson, Marie-Anne Shaw, John AL Armour
BMC Med Genet. 2014; 15: 5. Published online Jan 9, 2014. doi: 10.1186/1471-2350-15-5
PMCID:
PMC3897992
Yibo Yu, Yinhui Yu, Peiqing Chen, Jinyu Li, Yanan Zhu, Yi Zhai, Ke Yao
BMC Med Genet. 2014; 15: 6. Published online Jan 9, 2014. doi: 10.1186/1471-2350-15-6
PMCID:
PMC3890554
An-qiang Zhang, Wei Pan, Jun-wei Gao, Cai-li Yue, Ling Zeng, Wei Gu, Jian-xin Jiang
BMC Med Genet. 2014; 15: 8. Published online Jan 16, 2014. doi: 10.1186/1471-2350-15-8
PMCID:
PMC3901334
Bruno Schmidt Dellamea, Lana Catani Ferreira Pinto, Cristiane Bauermann Leitão, Katia Gonçalves Santos, Luis Henrique Santos Canani
BMC Med Genet. 2014; 15: 9. Published online Jan 16, 2014. doi: 10.1186/1471-2350-15-9
PMCID:
PMC3900462
Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren, Øivind Nilssen
BMC Med Genet. 2014; 15: 12. Published online Jan 21, 2014. doi: 10.1186/1471-2350-15-12
PMCID:
PMC3900263
Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola
BMC Med Genet. 2014; 15: 14. Published online Jan 23, 2014. doi: 10.1186/1471-2350-15-14
PMCID:
PMC3915031
Veronika Polakova Vymetalkova, Jana Slyskova, Vlasta Korenkova, Ludovit Bielik, Lucie Langerova, Pavel Prochazka, Alexandra Rejhova, Lucie Schwarzova, Barbara Pardini, Alessio Naccarati, Pavel Vodicka
BMC Med Genet. 2014; 15: 17. Published online Jan 31, 2014. doi: 10.1186/1471-2350-15-17
PMCID:
PMC3913626
Marie S Rye, Elizabeth SH Scaman, Ruth B Thornton, Shyan Vijayasekaran, Harvey L Coates, Richard W Francis, Craig E Pennell, Jenefer M Blackwell, Sarra E Jamieson
BMC Med Genet. 2014; 15: 18. Published online Feb 6, 2014. doi: 10.1186/1471-2350-15-18
PMCID:
PMC3926687
Guglielmina Pepe, Stefano Nistri, Betti Giusti, Elena Sticchi, Monica Attanasio, Cristina Porciani, Rosanna Abbate, Robert O Bonow, Magdi Yacoub, Gian Franco Gensini
BMC Med Genet. 2014; 15: 23. Published online Feb 24, 2014. doi: 10.1186/1471-2350-15-23
PMCID:
PMC3937520
Ying Zhao, Xiaoying Zhang, Xinhua Bao, Qingping Zhang, Jingjing Zhang, Guangna Cao, Jie Zhang, Jiarui Li, Liping Wei, Hong Pan, Xiru Wu
BMC Med Genet. 2014; 15: 24. Published online Feb 25, 2014. doi: 10.1186/1471-2350-15-24
PMCID:
PMC3938974
Hina Mir, Syed Irfan Raza, Muhammad Touseef, Mazhar Mustafa Memon, Muhammad Nasim Khan, Sulman Jaffar, Wasim Ahmad
BMC Med Genet. 2014; 15: 25. Published online Feb 26, 2014. doi: 10.1186/1471-2350-15-25
PMCID:
PMC3941482
Maria Marchese, Valerio Conti, Giulia Valvo, Francesca Moro, Filippo Muratori, Raffaella Tancredi, Filippo M Santorelli, Renzo Guerrini, Federico Sicca
BMC Med Genet. 2014; 15: 26. Published online Feb 27, 2014. doi: 10.1186/1471-2350-15-26
PMCID:
PMC3941568
Fernando Augusto de Lima Marson, Carmen Silvia Bertuzzo, Antonio Fernando Ribeiro, Jose Dirceu Ribeiro
BMC Med Genet. 2014; 15: 27. Published online Mar 4, 2014. doi: 10.1186/1471-2350-15-27
PMCID:
PMC3973994
Anne Stine Kvehaugen, Øyvind Melien, Oddgeir L Holmen, Hannele Laivuori, Ralf Dechend, Anne Cathrine Staff
BMC Med Genet. 2014; 15: 28. Published online Mar 5, 2014. doi: 10.1186/1471-2350-15-28
PMCID:
PMC3973870
Haihua Bai, Xukui Yang, Temuribagen, Guilan, Suyalatu, Narisu Narisu, Huiguang Wu, Yujie Chen, Yangjian Liu, Qizhu Wu
BMC Med Genet. 2014; 15: 34. Published online Mar 19, 2014. doi: 10.1186/1471-2350-15-34
PMCID:
PMC3994966
Caroline Ran, Lisette Graae, Patrik KE Magnusson, Nancy L Pedersen, Lars Olson, Andrea C Belin
BMC Med Genet. 2014; 15: 38. Published online Mar 28, 2014. doi: 10.1186/1471-2350-15-38
PMCID:
PMC3986694
Seung Kyu Park, Choon-Sik Park, Hyo-Suk Lee, Kyong Soo Park, Byung Lae Park, Hyun Sub Cheong, Hyoung Doo Shin
BMC Med Genet. 2014; 15: 40. Published online Apr 2, 2014. doi: 10.1186/1471-2350-15-40
PMCID:
PMC3975138
Lena Obeidova, Veronika Elisakova, Jitka Stekrova, Jana Reiterova, Miroslav Merta, Vladimir Tesar, Frantisek Losan, Milada Kohoutova
BMC Med Genet. 2014; 15: 41. Published online Apr 3, 2014. doi: 10.1186/1471-2350-15-41
PMCID:
PMC3992149

Study Protocol

Jennifer J Ware, Nic Timpson, George Davey Smith, Marcus R Munafò
BMC Med Genet. 2014; 15: 13. Published online Jan 22, 2014. doi: 10.1186/1471-2350-15-13
PMCID:
PMC3900674
Jan M Hodgson, Sylvia A Metcalfe, MaryAnne Aitken, Susan M Donath, Clara L Gaff, Ingrid M Winship, Martin B Delatycki, Loane LC Skene, Belinda J McClaren, Jean L Paul, Jane L Halliday
BMC Med Genet. 2014; 15: 33. Published online Mar 14, 2014. doi: 10.1186/1471-2350-15-33
PMCID:
PMC3995589
Denise Bernier, Georgina Macintyre, Robert Bartha, Christopher C Hanstock, David McAllindon, Diane Cox, Scot Purdon, Katherine J Aitchison, Benjamin Rusak, Philip G Tibbo
BMC Med Genet. 2014; 15: 37. Published online Mar 27, 2014. doi: 10.1186/1471-2350-15-37
PMCID:
PMC3986669

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