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The genetic predisposition to fibrocalculous pancreatic diabetes.
Kambo PK, Hitman GA, Mohan V, Ramachandran A, Snehalatha C, Suresh S, Metcalfe K, Ryait BK, Viswanathan M. Kambo PK, et al. Among authors: metcalfe k. Diabetologia. 1989 Jan;32(1):45-51. doi: 10.1007/BF00265403. Diabetologia. 1989. PMID: 2565269
Clinical heterogeneity of central pontine myelinolysis.
Bearcroft CP, Metcalfe K, McCarthy MI, Almond MK, Chong MS, Hitman GA. Bearcroft CP, et al. Among authors: metcalfe k. Lancet. 1988 Sep 17;2(8612):688. doi: 10.1016/s0140-6736(88)90504-1. Lancet. 1988. PMID: 2901549 No abstract available.
The clinical presentation caused by truncating CHD8 variants.
Douzgou S, Liang HW, Metcalfe K, Somarathi S, Tischkowitz M, Mohamed W, Kini U, McKee S, Yates L, Bertoli M, Lynch SA, Holder S; Deciphering Developmental Disorders Study; Banka S. Douzgou S, et al. Among authors: metcalfe k. Clin Genet. 2019 Jul;96(1):72-84. doi: 10.1111/cge.13554. Epub 2019 May 14. Clin Genet. 2019. PMID: 31001818
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Among authors: metcalfe ka. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
333 results