Julie Steffann (J Steffann)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 11

Top Topics

Top Venues

American journal of medical genetics. Part A

Human reproduction (Oxford, England)

Life (Basel, Switzerland)

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A 194 (8) (2024)
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A (2024)
Anne Mayeur, F Magnan, S Mathieu, P Rubens, B Sperelakis Beedham, Charlotte Sonigo, Julie Steffann, N Frydman
What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation? Human reproduction (Oxford, England) 39 (4) (2024)
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A 194 (8) (2024)
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj Rabia, Fabienne Charbit-Henrion, Florence Petit
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene. American journal of medical genetics. Part A 194 (8) (2024)
Anne Mayeur, F Magnan, S Mathieu, P Rubens, B Sperelakis Beedham, Charlotte Sonigo, Julie Steffann, N Frydman
What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation? Human reproduction (Oxford, England) (2024)
Kalliopi Chatzovoulou, Anne Mayeur, Nicolas Cagnard, Mohammed Zarhrate, Christine Bole, Patrick Nitschke, Fabienne Jabot-Hanin, Agnes Rotig, Sophie Monnot, Arnold Munnich, Nelly Frydman, Julie Steffann
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases. Human reproduction (Oxford, England) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnes Rotig, Benedetta Ruzzenente, Metodi D Metodiev
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy. Life (Basel, Switzerland) 13 (2) (2023)
Julie Steffann, Sophie Monnot, Maryse Magen, Zahra Assouline, Nadine Gigarel, Yves Ville, Laurent Salomon, Bettina Bessiere, Jelena Martinovic, Agnès Rötig, Joana Bengoa, Roxana Borghèse, Arnold Munnich, Giulia Barcia, Jean-Paul Bonnefont
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders. Genetics in medicine : official journal of the American College of Medical Genetics 23 (4) (2020)