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Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects
Patrice Bourgeois
,
Clothilde Esteve
,
Charlene Chaix
,
Christophe Béroud
,
Nicolas Levy
,
et al.
Article dans une revue
hal-01876433v1
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve
,
Ludmila Francescatto
,
Perciliz Tan
,
Aurélie Bourchany
,
Cécile de Leusse
,
et al.
Article dans une revue
hal-01721495v1
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Description Osteo-Oto-Hepato-Enteric (O2HE) syndrome, a new recessive autosomal syndrome secondary to loss of function mutations in the UNC45A gene
L. Faivre
,
Clothilde Esteve
,
L. Francescatto
,
P. L. Tan
,
A. Bourchany
,
et al.
European Journal of Human Genetics, 2019, 27 (1), pp.795-796
Article dans une revue
hal-02461437v1
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Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)
Cécile Baudot
,
Clothilde Esteve
,
Christel Castro
,
Yannick Poitelon
,
Camille Mas
,
et al.
Article dans une revue
istex
hal-01721501v1
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Correlation Between Clinical Signs and High-resolution Manometry Data in Children
Marine Juzaud
,
Marie-Dominique Lamblin
,
Alexandre Fabre
,
Marine Alessandrini
,
Karine Baumstarck
,
et al.
Article dans une revue
hal-02461450v1
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A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families
Alexandre Fabre
,
Laetitia-Marie Petit
,
Lars Hansen
,
Anne Wewer
,
Clothilde Esteve
,
et al.
Article dans une revue
hal-01721500v1
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
Lara El-Bazzal
,
Adeline Ghata
,
Clothilde Esteve
,
Jihane Gadacha
,
Patrice Quintana
,
et al.
Article dans une revue
hal-03977684v1
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Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot–Marie–Tooth disease 4H
Lara El-Bazzal
,
Adeline Ghata
,
Clothilde Esteve
,
Jihane Gadacha
,
Patrice Quintana
,
et al.
Article dans une revue
hal-04323648v1
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