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Links from MedGen

Items: 1 to 20 of 505

1.
David A. Roeseler, Shrikesh Sachdev, Desire M. Buckley, Trupti Joshi, Doris K. Wu, Dong Xu, Mark Hannink, Samuel T. Waters
PLoS One. 2012; 7(11): e47366. Published online 2012 Nov 8. doi: 10.1371/journal.pone.0047366
PMCID:
PMC3493575
2.
Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Alexander Sumaroka, Alejandro J. Roman, Leigh M. Gardner, Haydn M. Prosser, Monalisa Mishra, N. Torben Bech-Hansen, Waldo Herrera, Sharon B. Schwartz, Xue-Zhong Liu, William J. Kimberling, Karen P. Steel, David S. Williams
Hum Mol Genet. 2008 Aug 1; 17(15): 2405–2415. Published online 2008 May 7. doi: 10.1093/hmg/ddn140
PMCID:
PMC2733815
3.
Lama Jaffal, Wissam H Joumaa, Alexandre Assi, Charles Helou, George Cherfan, Kazem Zibara, Isabelle Audo, Christina Zeitz, Said El Shamieh
Genes (Basel) 2019 Dec; 10(12): 1047. Published online 2019 Dec 16. doi: 10.3390/genes10121047
PMCID:
PMC6947157
4.
Gavin Dean, Amy Orford, Roy Staines, Anna McGee, Kimberley J Smith
BMJ Open. 2017; 7(1): e013261. Published online 2017 Jan 12. doi: 10.1136/bmjopen-2016-013261
PMCID:
PMC5253575
5.
Shzeena Dad, Nanna D Rendtorff, Erik Kann, Anders Albrechtsen, Mana M Mehrjouy, Mads Bak, Niels Tommerup, Lisbeth Tranebjærg, Thomas Rosenberg, Hanne Jensen, Lisbeth B Møller
Eur J Hum Genet. 2015 Dec; 23(12): 1646–1651. Published online 2015 Mar 25. doi: 10.1038/ejhg.2015.54
PMCID:
PMC4795208
6.
Pépin-Williams Atipo-Tsiba
Pan Afr Med J. 2016; 23: 99. French. Publication en ligne 2016 mars 15. DOI : 10.11604/pamj.2016.23.99.9025
PMCID:
PMC4867733
7.
Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio, Shin-ichi Usami
J Hum Genet. 2016 May; 61(5): 419–422. Published online 2016 Jan 21. doi: 10.1038/jhg.2015.168
PMCID:
PMC4893503
8.
Imen Ben-Rebeh, Mhamed Grati, Crystel Bonnet, Walid Bouassida, Imen Hadjamor, Hammadi Ayadi, Abdelmonem Ghorbel, Christine Petit, Saber Masmoudi
Mol Vis. 2016; 22: 827–835. Published online 2016 Jul 19.
PMCID:
PMC4950652
9.
Tongchao Li, Nikolaos Giagtzoglou, Daniel F Eberl, Sonal Nagarkar Jaiswal, Tiantian Cai, Dorothea Godt, Andrew K Groves, Hugo J Bellen
eLife. 2016; 5: e15258. Published online 2016 Jun 22. doi: 10.7554/eLife.15258
PMCID:
PMC4978524
10.
Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit
PLoS One. 2016; 11(9): e0161893. Published online 2016 Sep 1. doi: 10.1371/journal.pone.0161893
PMCID:
PMC5008642
11.
Shzeena Dad, Nanna Dahl Rendtorff, Lisbeth Tranebjærg, Karen Grønskov, Helena Gásdal Karstensen, Vigdis Brox, Øivind Nilssen, Anne‐Françoise Roux, Thomas Rosenberg, Hanne Jensen, Lisbeth Birk Møller
Mol Genet Genomic Med. 2016 Sep; 4(5): 527–539. Published online 2016 Jun 28. doi: 10.1002/mgg3.228
PMCID:
PMC5023938
12.
Lynn W. Sun, Ryan D. Johnson, Christopher S. Langlo, Robert F. Cooper, Moataz M. Razeen, Madia C. Russillo, Alfredo Dubra, Thomas B. Connor, Jr, Dennis P. Han, Mark E. Pennesi, Christine N. Kay, David V. Weinberg, Kimberly E. Stepien, Joseph Carroll
Invest Ophthalmol Vis Sci. 2016 May; 57(6): 2428–2442. Published online 2016 May 4. doi: 10.1167/iovs.15-18246
PMCID:
PMC5089122
13.
Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Singh-Estivalet, Saddek Mohand-Saïd, Susanne Kohl, Anne Kurtenbach, Ieva Sliesoraityte, Ditta Zobor, Souad Gherbi, Francesco Testa, Francesca Simonelli, Sandro Banfi, Ana Fakin, Damjan Glavač, Martina Jarc-Vidmar, Andrej Zupan, Saba Battelino, Loreto Martorell Sampol, Maria Antonia Claveria, Jaume Catala Mora, Shzeena Dad, Lisbeth B Møller, Jesus Rodriguez Jorge, Marko Hawlina, Alberto Auricchio, José-Alain Sahel, Sandrine Marlin, Eberhart Zrenner, Isabelle Audo, Christine Petit
Eur J Hum Genet. 2016 Dec; 24(12): 1730–1738. Published online 2016 Jul 27. doi: 10.1038/ejhg.2016.99
PMCID:
PMC5117943
14.
Ieva Sliesoraityte, Tunde Peto, Saddek Mohand-Said, Jose Alain Sahel
Orphanet J Rare Dis. 2015; 10: 157. Published online 2015 Dec 10. doi: 10.1186/s13023-015-0372-0
PMCID:
PMC4676164
15.
Bifeng Pan, Charles Askew, Alice Galvin, Selena Heman-Ackah, Yukako Asai, Artur A. Indzhykulian, Francine M. Jodelka, Michelle L. Hastings, Jennifer J. Lentz, Luk H. Vandenberghe, Jeffrey R. Holt, Gwenaëlle G.S. Géléoc
Nat Biotechnol.
Published in final edited form as: Nat Biotechnol. 2017 Mar; 35(3): 264–272. Published online 2017 Feb 6. doi: 10.1038/nbt.3801
PMCID:
PMC5340578
16.
Ana Cristina H. Hoshino, Agustina Echegoyen, Maria Valéria Schmidt Goffi-Gomez, Robinson Koji Tsuji, Ricardo Ferreira Bento
Int Arch Otorhinolaryngol. 2017 Apr; 21(2): 140–143. Published online 2016 May 4. doi: 10.1055/s-0036-1583306
PMCID:
PMC5375700
17.
Arif O. Khan, Elvir Becirovic, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz
Sci Rep. 2017; 7: 1411. Published online 2017 May 3. doi: 10.1038/s41598-017-01577-8
PMCID:
PMC5431179
18.
Cataldo Schietroma, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui, Christine Petit
J Cell Biol. 2017 Jun 5; 216(6): 1849–1864. doi: 10.1083/jcb.201612030
PMCID:
PMC5461027
19.
B.P. Hartel, M.J.H. Agterberg, A.F. Snik, H.P.M. Kunst, A.J. van Opstal, A.J. Bosman, R.J.E. Pennings
Clin Otolaryngol. 2017 Aug; 42(4): 805–814. Published online 2016 Nov 6. doi: 10.1111/coa.12775
PMCID:
PMC5516239
20.
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller‐Hofstede, Peter Charbel Issa, Raoul Heller, Bodo Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike M. Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid M. Baig, Heidi Stöhr, Markus Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel‐Wolfrum, Arif O. Khan, Hanno J. Bolz
Mol Genet Genomic Med. 2017 Sep; 5(5): 531–552. Published online 2017 Jul 6. doi: 10.1002/mgg3.312
PMCID:
PMC5606877

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