Bénédicte Sudrié‐Arnaud

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation

Bénédicte Sudrié‐Arnaud, Florent Marguet, Sophie Patrier et al. · Clinica Chimica Acta · 2018 · 40 citations

Medicine, Molecular Medicine, Obstetrics +17

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

Pascaline Gaildrat, Saïd Lebbah, Abdellah Tebani et al. · Molecular Genetics & Genomic Medicine · 2017 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation

Ivana Dabaj, Bénédicte Sudrié‐Arnaud, François Lecoquierre et al. · Life · 2021 · 26 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +15

Methylmalonyl-CoA Epimerase Deficiency Mimicking Propionic Aciduria

Lénaïg Abily-Donval, Stéphanie Torre, Aurélie Samson et al. · International Journal of Molecular Sciences · 2017 · 18 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +16

Thrombin generation test as a marker for high risk venous thrombosis pregnancies

Bérangère S. Joly, Bénédicte Sudrié‐Arnaud, Virginie Barbay et al. · Journal of Thrombosis and Thrombolysis · 2017 · 15 citations

Medicine, Maternal Health, Obstetrics +14