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Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: bhatia v. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
Onengut-Gumuscu S, Chen WM, Burren O, Cooper NJ, Quinlan AR, Mychaleckyj JC, Farber E, Bonnie JK, Szpak M, Schofield E, Achuthan P, Guo H, Fortune MD, Stevens H, Walker NM, Ward LD, Kundaje A, Kellis M, Daly MJ, Barrett JC, Cooper JD, Deloukas P; Type 1 Diabetes Genetics Consortium; Todd JA, Wallace C, Concannon P, Rich SS. Onengut-Gumuscu S, et al. Nat Genet. 2015 Apr;47(4):381-6. doi: 10.1038/ng.3245. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751624 Free PMC article.
Neonatal Diabetes Mellitus: Novel Mutations.
Nayak S, Sarangi AN, Sahoo SK, Mangla P, Tripathy M, Rao S, Gupta S, Paliwal VK, Sudhanshu S, Ravi C, Joshi K, Bhatia V, Bhatia E. Nayak S, et al. Among authors: bhatia v, bhatia e. Indian J Pediatr. 2021 Aug;88(8):785-792. doi: 10.1007/s12098-020-03567-7. Epub 2021 Jan 7. Indian J Pediatr. 2021. PMID: 33409956
Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.
Mangla P, Gambhir PS, Sudhanshu S, Srivastava P, Rai A, Bhatia V, Phadke SR. Mangla P, et al. Among authors: bhatia v. Indian J Pediatr. 2017 Dec;84(12):959-960. doi: 10.1007/s12098-017-2430-1. Epub 2017 Aug 23. Indian J Pediatr. 2017. PMID: 28831725 No abstract available.
987 results