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Items: 6

1.
Tobias Hirsch, Tobias Rothoeft, Norbert Teig, Johann W. Bauer, Graziella Pellegrini, Laura De Rosa, Davide Scaglione, Julia Reichelt, Alfred Klausegger, Daniela Kneisz, Oriana Romano, Alessia Secone Seconetti, Roberta Contin, Elena Enzo, Irena Jurman, Sonia Carulli, Frank Jacobsen, Thomas Luecke, Marcus Lehnhardt, Meike Fischer, Maximilian Kueckelhaus, Daniela Quaglino, Michele Morgante, Silvio Bicciato, Sergio Bondanza, Michele De Luca
Nature.
Published in final edited form as: Nature. 2017 Nov 16; 551(7680): 327–332. Published online 2017 Nov 8. doi: 10.1038/nature24487
PMCID:
PMC6283270
2.
R Varki, S Sadowski, E Pfendner, J Uitto
J Med Genet. 2006 Aug; 43(8): 641–652. Published online 2006 Feb 10. doi: 10.1136/jmg.2005.039685
PMCID:
PMC2564586
3.
H E Cross, R S Wells, J R Esterly
J Med Genet. 1968 Sep; 5(3): 189–196. doi: 10.1136/jmg.5.3.189
PMCID:
PMC1468651
4.
B C Davison
J Med Genet. 1965 Dec; 2(4): 233–242. doi: 10.1136/jmg.2.4.233
PMCID:
PMC1012874
5.
N Domloge-Hultsch, W R Gammon, R A Briggaman, S G Gil, W G Carter, K B Yancey
J Clin Invest. 1992 Oct; 90(4): 1628–1633. doi: 10.1172/JCI116033
PMCID:
PMC443212
6.
C Baudoin, C Miquel, C Blanchet-Bardon, C Gambini, G Meneguzzi, J P Ortonne
J Clin Invest. 1994 Feb; 93(2): 862–869. doi: 10.1172/JCI117041
PMCID:
PMC293950

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