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Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF. Willig LK, et al. Among authors: fischer rt. Lancet Respir Med. 2015 May;3(5):377-87. doi: 10.1016/S2213-2600(15)00139-3. Epub 2015 Apr 27. Lancet Respir Med. 2015. PMID: 25937001 Free PMC article.
Neonatal Graves' Disease with Maternal Hypothyroidism.
Akangire G, Cuna A, Lachica C, Fischer R, Raman S, Sampath V. Akangire G, et al. AJP Rep. 2017 Jul;7(3):e181-e184. doi: 10.1055/s-0037-1606365. Epub 2017 Sep 22. AJP Rep. 2017. PMID: 28948062 Free PMC article.
67 results