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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Berauer JP, Mezina AI, Okou DT, Sabo A, Muzny DM, Gibbs RA, Hegde MR, Chopra P, Cutler DJ, Perlmutter DH, Bull LN, Thompson RJ, Loomes KM, Spinner NB, Rajagopalan R, Guthery SL, Moore B, Yandell M, Harpavat S, Magee JC, Kamath BM, Molleston JP, Bezerra JA, Murray KF, Alonso EM, Rosenthal P, Squires RH, Wang KS, Finegold MJ, Russo P, Sherker AH, Sokol RJ, Karpen SJ; Childhood Liver Disease Research Network (ChiLDReN). Berauer JP, et al. Among authors: spinner nb. Hepatology. 2019 Sep;70(3):899-910. doi: 10.1002/hep.30515. Epub 2019 Mar 21. Hepatology. 2019. PMID: 30664273 Free PMC article.
Facial features in Alagille syndrome: specific or cholestasis facies?
Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Kamath BM, et al. Among authors: spinner nb. Am J Med Genet. 2002 Oct 1;112(2):163-70. doi: 10.1002/ajmg.10579. Am J Med Genet. 2002. PMID: 12244550
Craniosynostosis in Alagille syndrome.
Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Kamath BM, et al. Among authors: spinner nb. Am J Med Genet. 2002 Oct 1;112(2):176-80. doi: 10.1002/ajmg.10608. Am J Med Genet. 2002. PMID: 12244552
Consequences of JAG1 mutations.
Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Kamath BM, et al. Among authors: spinner nb. J Med Genet. 2003 Dec;40(12):891-5. doi: 10.1136/jmg.40.12.891. J Med Genet. 2003. PMID: 14684686 Free PMC article.
Intracranial vascular abnormalities in patients with Alagille syndrome.
Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. Emerick KM, et al. Among authors: spinner nb. J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):99-107. doi: 10.1097/01.mpg.0000162776.67758.2f. J Pediatr Gastroenterol Nutr. 2005. PMID: 15990638
220 results