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Homozygous hypomorphic BRCA2 variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait
Sandrine Caburet
,
Abdelkader Heddar
,
Elodie Dardillac
,
Héléne Creux
,
Marie Lambert
et al.
Journal articles
hal-03044709v1
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A homozygous $FANCM$ mutation underlies a familial case of non-syndromic primary ovarian insufficiency
Baptiste Fouquet
,
Patrycja Pawlikowska
,
Sandrine Caburet
,
Céline Guigon
,
Marika Mäkinen
et al.
Journal articles
hal-02391886v1
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Claudin-6 and Occludin Natural Variants Found in a Patient Highly Exposed but Not Infected with Hepatitis C Virus (HCV) Do Not Confer HCV Resistance In Vitro
Lucie Fénéant
,
Jade Ghosn
,
Baptiste Fouquet
,
Francois Helle
,
Sandrine Belouzard
et al.
Journal articles
hal-02104504v1
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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine
Abdelkader Heddar
,
Cagri Ogur
,
Sabrina da Costa
,
Inès Braham
,
Line Billaud-Rist
et al.
Journal articles
hal-03790543v1
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Thyrotropin receptor trafficking relies on the hScrib-ƒÒPIX-GIT1-ARF6 pathway
Olivier Lahuna
,
Mylène Quellari
,
Caroline Achard
,
Sébastien Nola
,
Géri Méduri
et al.
Journal articles
hal-00094094v1
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Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency
Ilpo Huhtaniemi
,
Outi Hovatta
,
Antonio La Marca
,
Gabriel Livera
,
Danielle Monniaux
et al.
Journal articles
hal-02628564v1
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