Concepedia
Statistics
Publications
9
Citations
734
H-Index
Active since
1992
Affiliations
Hôpital d'Enfants(Current)
Inserm
Sorbonne Université
Hôpital de la Timone
Centre Hospitalier Régional et Universitaire de Nancy
Dominique Steschenko is an author at Hôpital d'Enfants specializing in genetics, life sciences, and medical genetics.
Publications per year
1992–2018
A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia
Lionel Arnaud, Carole Saison, Virginie Helias et al. · The American Journal of Human Genetics · 2010 · 198 citations · Full text
Life Sciences, Genetics, Molecular Genetics +7
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females
Christel Depienne, Oriane Trouillard, Delphine Bouteiller et al. · Human Mutation · 2010 · 125 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
<i>PRRT2</i> mutations
Aurélie Méneret, David Grabli, Christel Depienne et al. · Neurology · 2012 · 106 citations
Life Sciences, Genetics, Molecular Genetics +16
Complications and treatment of patients with -thalassemia in France: results of the National Registry
Isabelle Thuret, Corinne Pondarré, Anderson Loundou et al. · Haematologica · 2009 · 103 citations · Full text
Medicine, Hematology, Internal Medicine +14
Novel mutations in <i>EPM2A</i> and <i>NHLRC1</i> widen the spectrum of Lafora disease
Gaëtan Lesca, Nadia Boutry‐Kryza, Bertrand de Toffol et al. · Epilepsia · 2010 · 48 citations
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