Emmanuelle Pannier

ORCID

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 6

Top Venues

Birth defects research

This page only lists publications with an associated author ORCID identifier.

Publications

Emmanuelle Pannier, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié-Bitach
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism. Birth defects research 116 (7) (2024)
Emmanuelle Pannier, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié-Bitach
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism. Birth defects research 116 (7) (2024)
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attie-Bitach
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1. Birth defects research (2022)
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attie-Bitach
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1. Birth defects research 115 (5) (2022)
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attie-Bitach
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1. Birth defects research 115 (5) (2022)
Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, Charles Egloff, Juliette Nectoux, Clémence Molac, Nathalie Roux, Emmanuelle Pannier, Amale Achaiaa, Zaina Ait Arkoub, Sophie Chuon, Aurélie Coussement, Jean Michel Dupont, Valérie Malan, Emmanuel Spaggiari, Ferechte Razavi, Jeanne Amiel, Bettina Bessières, Sarah Grotto, Tania Attie-Bitach
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1. Birth defects research 115 (5) (2022)

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Publication Activity (10 Years)

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Emmanuelle Pannier