Marie-helene Frison-Saint
49, Boulevard Sérurier
Paris, 75019, France
Paris, 75019, France
Last Updated: 09/26/2026
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Found 11 publications
Case #6. Placental cytomegalovirus infection
Journal: Annales de pathologie
Published: November 16, 2024
Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.
Journal: Prenatal diagnosis
Published: February 20, 2024
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Journal: Journal of medical genetics
Published: January 05, 2024
Criteria and non-criteria antiphospholipid autoantibodies screening in patients with late pregnancy morbidity: A cross-sectional study.
Journal: Placenta
Published: November 24, 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Journal: Clinical genetics
Published: April 03, 2023
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal: Journal of medical genetics
Published: November 16, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Journal: Journal of medical genetics
Published: February 24, 2020
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Journal: American journal of human genetics
Published: July 10, 2017
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Journal: Human molecular genetics
Published: December 10, 2013
Showing 1-11 of 11
Last Updated: 09/26/2026