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Items: 3

1.

Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency.

Heddar A, Dessen P, Flatters D, Misrahi M.

Mol Genet Genomics. 2019 Dec;294(6):1527-1534. doi: 10.1007/s00438-019-01594-4. Epub 2019 Jul 30.

PMID:
31363903
2.

Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency.

Huhtaniemi I, Hovatta O, La Marca A, Livera G, Monniaux D, Persani L, Heddar A, Jarzabek K, Laisk-Podar T, Salumets A, Tapanainen JS, Veitia RA, Visser JA, Wieacker P, Wolczynski S, Misrahi M.

Trends Endocrinol Metab. 2018 Jun;29(6):400-419. doi: 10.1016/j.tem.2018.03.010. Epub 2018 Apr 26. Review.

3.

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Fr├ębourg T, Tournier I.

Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25.

PMID:
27636706

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