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Wolf-Hirschorn syndrome resulting from partial monosomy 4p/trisomy 9p.
Am J Med Genet. 2000 Aug 14;93(4):285-9. doi: 10.1002/1096-8628(20000814)93:4<285::aid-ajmg6>3.0.co;2-n.
Am J Med Genet. 2000.
PMID: 10946354
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.
Dushar M, Nowaczyk J, Pyrżak B, Akopyan H, Śmigiel R, Walczak A, Rydzanicz M, Płoski R, Szczałuba K.
Dushar M, et al.
Eur J Med Genet. 2021 Dec;64(12):104368. doi: 10.1016/j.ejmg.2021.104368. Epub 2021 Oct 18.
Eur J Med Genet. 2021.
PMID: 34673243
Free article.
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Nutritional issues in a diabetic patient with Kearns-Sayre syndrome.
Szwilling A, Dzygalo K, Nowaczyk J.
Szwilling A, et al.
Endocrinol Diabetes Metab Case Rep. 2020 Nov 26;2020:EDM200082. doi: 10.1530/EDM-20-0082. Online ahead of print.
Endocrinol Diabetes Metab Case Rep. 2020.
PMID: 33434157
Free article.
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