Julie Steffann

NDP gene mutations in 14 French families with Norrie disease

Ghislaine Royer, Sylvain Hanein, Val�rie Raclin et al. · Human Mutation · 2003 · 37 citations · Full text

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019

Joanna Poulton, Julie Steffann, Joerg P. Burgstaller et al. · Neuromuscular Disorders · 2019 · 26 citations · Full text

Family Medicine, Genetic Testing, Fertility +19

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations*

N. Bellon, S. Hadj‐Rabia, Florence Moulin et al. · British Journal of Dermatology · 2020 · 25 citations

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

Julie Steffann, Sophie Monnot, Maryse Magen et al. · Genetics in Medicine · 2020 · 21 citations · Full text

Retrospective Study, Mitochondrial Therapy, Gynecology +7

Increased incidence of obstetric complications in women carrying mitochondrial <scp>DNA</scp> mutations: a retrospective cohort study in a single tertiary centre

M. Kuleva, S Ben Miled, Julie Steffann et al. · BJOG An International Journal of Obstetrics & Gynaecology · 2018 · 14 citations