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Découverte par exome ciblé d’une nouvelle mutation homozygote de MCM8 chez des femmes avec insuffisance ovarienne prématurée membres d’une famille consanguine. Caractérisation fonc...
by
Bouali, N.
,
Francou, B.
,
Bouligand, J.
,
Imanci, D.
,
Dimessi, S.
,
Tosca, L.
,
Zaouali, M.
,
Mougou, S.
,
Young, J.
,
Saad, A.
,
Guiochon-Mantel, A.
Published in
Annales d'endocrinologie
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Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure
by
Bouali, Nouha
,
Hmida, Dorra
,
Mougou, Soumaya
,
Bouligand, Jérôme
,
Lakhal, Besma
,
Dimessi, Sarra
,
Francou, Bruno
,
Saad, Ghada
,
Trabelsi, Saoussen
,
Zaouali, Monia
,
Gribaa, Moez
,
Chaieb, Molka
,
Bibi, Mouhamed
,
Guiochon-Mantel, Anne
,
Saad, Ali
Published in
Annales d'endocrinologie
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Annales D'endocrinologie
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Adult
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Anomalies Chromosomiques De L’x
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Chromosomes, Human, X - Genetics
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Endocrinology & Metabolism
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Estradiol - Blood
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Fmr1 Gene
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Follicle Stimulating Hormone - Blood
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Fragile X Mental Retardation Protein - Genetics
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Gène Fmr1
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Humans
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In Situ Hybridization, Fluorescence
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Insuffisance Ovarienne Prématurée
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Internal Medicine
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Karyotyping
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Life Sciences & Biomedicine
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Luteinizing Hormone - Blood
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