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A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. Lee E, et al. Among authors: haan e. Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215649 Free article.
Localization of craniosynostosis Adelaide type to 4p16.
Hollway GE, Phillips HA, Adès LC, Haan EA, Mulley JC. Hollway GE, et al. Among authors: haan ea. Hum Mol Genet. 1995 Apr;4(4):681-3. doi: 10.1093/hmg/4.4.681. Hum Mol Genet. 1995. PMID: 7633418
Congenital heart malformation in Yunis-Varón syndrome.
Adès LC, Morris LL, Richardson M, Pearson C, Haan EA. Adès LC, et al. Among authors: haan ea. J Med Genet. 1993 Sep;30(9):788-92. doi: 10.1136/jmg.30.9.788. J Med Genet. 1993. PMID: 8411078 Free PMC article. Review.
Hydrocephalus in Hajdu-Cheney syndrome.
Adès LC, Morris LL, Haan EA. Adès LC, et al. Among authors: haan ea. J Med Genet. 1993 Feb;30(2):175. doi: 10.1136/jmg.30.2.175. J Med Genet. 1993. PMID: 8445627 Free PMC article. No abstract available.
615 results