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Marie Faoucher
Marie Faoucher
Biology
Medicine
Disease
Pathology
Exome sequencing
5
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3
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0
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Author response for "Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype"
2021
Auriane Cospain
Elise Schaefer
Marie Faoucher
Christèle Dubourg
Wilfrid Carre
Varoona Bizaoui
Jessica Assoumani
Lionel Van Maldergem
Amélie Piton
Bénédicte Gérard
Frédéric Tran-Mau-Them
Ange-Line Bruel
Laurence Faivre
Florence Demurger
Laurent Pasquier
Sylvie Odent
Mélanie Fradin
Alinoë Lavillaureix
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A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism.
2020
Cytogenetic and Genome Research
Pauline Monin
Nicolas Reynaud
Nadine Hanna
Sophie Dupuis-Girod
Marianne Till
Pauline Arnaud
Audrey Labalme
Eudeline Alix
Coline Poizat-Amar
Marie Faoucher
Lucie Ravella
Bernard Debost
Jean-François Obadia
Jean-Christophe Zech
Catherine Boileau
Damien Sanlaville
Patrick Edery
Audrey Putoux
Caroline Schluth-Bolard
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Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
2020
European Journal of Medical Genetics
Linda Pons
Isabelle Sabatier
Eudeline Alix
Marie Faoucher
Audrey Labalme
Damien Sanlaville
Gaetan Lesca
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Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
2019
Molecular genetics and metabolism reports
Marie Faoucher
Anne-Lise Poulat
Nicolas Chatron
Audrey Labalme
Caroline Schluth-Bolard
Marianne Till
Christine Vianey-Saban
Vincent des Portes
Patrick Edery
Damien Sanlaville
Gaetan Lesca
Cécile Acquaviva
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The psychopharmacology of Wilson disease and other metabolic disorders
2019
Handbook of Clinical Neurology
Marie Faoucher
Caroline Demily
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