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Items: 1 to 20 of 264

1.
Subramanian Subramanian, Deepa Soundara Rajan, Jenna Gaesser, Cecilia Wen-Ya Lo, Ashok Panigraphy
Pediatr Radiol.
Published in final edited form as: Pediatr Radiol. 2019 Sep; 49(10): 1368–1373. Published online 2019 Aug 9. doi: 10.1007/s00247-019-04480-8
PMCID:
PMC8567334
2.
Jiji V Unni, Deepak Daryani, K C Sreejan, P M Uthkal
Int J Appl Basic Med Res. 2020 Apr-Jun; 10(2): 140–142. Published online 2020 Apr 2. doi: 10.4103/ijabmr.IJABMR_391_18
PMCID:
PMC7289203
3.
Evelina Siavrienė, Violeta Mikštienė, Darius Radzevičius, Živilė Maldžienė, Tautvydas Rančelis, Gunda Petraitytė, Giedrė Tamulytė, Ingrida Kavaliauskienė, Laurynas Šarkinas, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Mol Genet Genomic Med. 2019 Sep; 7(9): e878. Published online 2019 Jul 20. doi: 10.1002/mgg3.878
PMCID:
PMC6732282
4.
Martina Siracusano, Assia Riccioni, Antonia Baratta, Maurizia Baldi, Paolo Curatolo, Luigi Mazzone
J Med Case Rep. 2019; 13: 100. Published online 2019 Apr 23. doi: 10.1186/s13256-019-2043-6
PMCID:
PMC6477736
5.
Saki Ito, Riko Kitazawa, Ryuma Haraguchi, Takeshi Kondo, Ayaka Ouchi, Yasuo Ueda, Sohei Kitazawa
Diagn Pathol. 2018; 13: 1. Published online 2018 Jan 3. doi: 10.1186/s13000-017-0682-8
PMCID:
PMC6389258
6.
Rashmi Patel, Fanish Mani Tripathi, Subodh Kumar Singh, Anjali Rani, Visweswar Bhattacharya, Akhtar Ali
Meta Gene. 2014 Dec; 2: 880–887. Published online 2014 Nov 25. doi: 10.1016/j.mgene.2014.11.002
PMCID:
PMC4297881
7.
Jane A Hurst, Dagan Jenkins, Pradeep C Vasudevan, Maria Kirchhoff, Flemming Skovby, Claudine Rieubland, Sabina Gallati, Olaf Rittinger, Peter M Kroisel, David Johnson, Leslie G Biesecker, Andrew OM Wilkie
Eur J Hum Genet. 2011 Jul; 19(7): 757–762. Published online 2011 Feb 16. doi: 10.1038/ejhg.2011.13
PMCID:
PMC3128494
8.
Leslie G Biesecker
Orphanet J Rare Dis. 2008; 3: 10. Published online 2008 Apr 24. doi: 10.1186/1750-1172-3-10
PMCID:
PMC2397380
9.
Min Liu, Peng Xiao
Sensors (Basel) 2019 Dec; 19(23): 5062. Published online 2019 Nov 20. doi: 10.3390/s19235062
PMCID:
PMC6929074
10.
Guo Zhang, Qingwei Wu, Taoyang Wang, Ruishan Zhao, Mingjun Deng, Boyang Jiang, Xin Li, Huabin Wang, Yu Zhu, Fangting Li
Sensors (Basel) 2018 Nov; 18(11): 4023. Published online 2018 Nov 18. doi: 10.3390/s18114023
PMCID:
PMC6263381
11.
Solveig Schulz, Marianne Volleth, Petra Muschke, Ilse Wieland, Peter Wieacker
Appl Clin Genet. 2008; 1: 19–22. Published online 2008 Nov 18. doi: 10.2147/TACG.S4401
Expression of Concern in:
Appl Clin Genet. 2021; 14: 87.
PMCID:
PMC3681123
12.
Margitta Lungenhausen, Stefan Lange, Christoph Maier, Claudia Schaub, Hans J Trampisch, Heinz G Endres
BMC Med Res Methodol. 2007; 7: 50. Published online 2007 Nov 22. doi: 10.1186/1471-2288-7-50
PMCID:
PMC2216025
13.
L A Brueton, K A Chotai, L van Herwerden, A Schinzel, R M Winter
J Med Genet. 1992 Sep; 29(9): 635–637. doi: 10.1136/jmg.29.9.635
PMCID:
PMC1016094
14.
Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor
J Med Genet. 2023 May; 60(5): 505–510. Published online 2022 Nov 21. doi: 10.1136/jmg-2022-108753
PMCID:
PMC10176330
15.
Tamara Casteleyn, Denise Horn, Wolfgang Henrich, Stefan Verlohren
Arch Gynecol Obstet. 2022; 306(1): 49–57. Published online 2021 Oct 11. doi: 10.1007/s00404-021-06263-9
PMCID:
PMC9300495
16.
Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streață, Simona Ş. Şoşoi, Andrei Pirvu, Codruța D. Petchesi, Ariana Szilágyi, Cristian N. Sava, Alexandru Jurca, Anikó Ujfalusi, Zsuzsanna Szűcs, Katalin Szakszon
Genes (Basel) 2021 Nov; 12(11): 1674. Published online 2021 Oct 23. doi: 10.3390/genes12111674
PMCID:
PMC8623992
17.
Florence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, Martine Le Merrer, Géraldine Goudefroye, Anne-Lise Delezoide, Chloé Quélin, Sylvie Manouvrier, Geneviève Baujat, Mélanie Fradin, Laurent Pasquier, André Megarbané, Laurence Faivre, Clarisse Baumann, Sheela Nampoothiri, Joëlle Roume, Bertrand Isidor, Didier Lacombe, Marie-Ange Delrue, Sandra Mercier, Nicole Philip, Elise Schaefer, Muriel Holder, Amanda Krause, Fanny Laffargue, Martine Sinico, Daniel Amram, Gwenaelle André, Alain Liquier, Massimiliano Rossi, Jeanne Amiel, Fabienne Giuliano, Odile Boute, Anne Dieux-Coeslier, Marie-Line Jacquemont, Alexandra Afenjar, Lionel Van Maldergem, Marylin Lackmy-Port-Lis, Catherine Vincent- Delorme, Marie-Liesse Chauvet, Valérie Cormier-Daire, Louise Devisme, David Geneviève, Arnold Munnich, Géraldine Viot, Odile Raoul, Serge Romana, Marie Gonzales, Ferechte Encha-Razavi, Sylvie Odent, Michel Vekemans, Tania Attie-Bitach
Eur J Hum Genet. 2015 Jan; 23(1): 92–102. Published online 2014 Apr 16. doi: 10.1038/ejhg.2014.62
PMCID:
PMC4266745
18.
Aleksander Jamsheer, Anna Sowińska, Tomasz Trzeciak, Małgorzata Jamsheer-Bratkowska, Anita Geppert, Anna Latos-Bieleńska
J Appl Genet. 2012; 53(4): 415–422. Published online 2012 Aug 18. doi: 10.1007/s13353-012-0109-x
PMCID:
PMC3477483
19.
Sybille Krauß, Joyce So, Melanie Hambrock, Andrea Köhler, Melanie Kunath, Constance Scharff, Martina Wessling, Karl-Heinz Grzeschik, Rainer Schneider, Susann Schweiger
PLoS One. 2009; 4(10): e7471. Published online 2009 Oct 15. doi: 10.1371/journal.pone.0007471
PMCID:
PMC2758996
20.
Jennifer J. Johnston, Isabelle Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, David J. Aughton, Arthur S. Aylsworth, Michael J. Bamshad, Carol Booth, Cynthia J. Curry, Albert David, Mary Beth Dinulos, David B. Flannery, Michelle A. Fox, John M. Graham, Dorothy K. Grange, Alan E. Guttmacher, Mark C. Hannibal, Wolfram Henn, Raoul C. M. Hennekam, Lewis B. Holmes, H. Eugene Hoyme, Kathleen A. Leppig, Angela E. Lin, Patrick MacLeod, David K. Manchester, Carlo Marcelis, Laura Mazzanti, Emma McCann, Marie T. McDonald, Nancy J. Mendelsohn, John B. Moeschler, Billur Moghaddam, Giovanni Neri, Ruth Newbury-Ecob, Roberta A. Pagon, John A. Phillips, Laurie S. Sadler, Joan M. Stoler, David Tilstra, Catherine M. Walsh Vockley, Elaine H. Zackai, Touran M. Zadeh, Louise Brueton, Graeme Charles M. Black, Leslie G. Biesecker
Am J Hum Genet. 2005 Apr; 76(4): 609–622. Published online 2005 Feb 28. doi: 10.1086/429346
PMCID:
PMC1199298

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