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Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170.
J Med Genet. 2023.
PMID: 37586840
UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Bansept C, Gaignard P, Lebigot E, Eyer D, Delplancq G, Hoebeke C, Mazodier K, Ledoyen A, Rouzier C, Fragaki K, Ait-El-Mkadem Saadi S, Philippe C, Bruel AL, Faivre L, Feillet F, Abi Warde MT.
Bansept C, et al.
Mitochondrion. 2023 Jan;68:138-144. doi: 10.1016/j.mito.2022.12.001. Epub 2022 Dec 9.
Mitochondrion. 2023.
PMID: 36509339
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mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
Szymanowski M, Estebanez MS, Padidela R, Han B, Mosinska K, Stevens A, Damaj L, Pihan-Le Bars F, Lascouts E, Reynaud R, Ferreira C, Bansept C, de Lonlay P, Saint-Martin C, Dunne MJ, Banerjee I, Arnoux JB.
Szymanowski M, et al. Among authors: bansept c.
J Clin Endocrinol Metab. 2016 Dec;101(12):4719-4729. doi: 10.1210/jc.2016-2711. Epub 2016 Oct 3.
J Clin Endocrinol Metab. 2016.
PMID: 27691052
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