Martine Bucourt

Bondy, France

Last Updated: 09/26/2026

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Found 18 publications

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal: Journal of medical genetics

Published: November 16, 2020

Understanding high rates of stillbirth and neonatal death in a disadvantaged, high-migrant district in France: A perinatal audit.

Understanding high rates of stillbirth and neonatal death in a disadvantaged, high-migrant district in France: A perinatal audit.

Journal: Acta obstetricia et gynecologica Scandinavica

Published: October 10, 2019

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.

Journal: European journal of medical genetics

Published: July 22, 2019

Low autopsy acceptance after stillbirth in a disadvantaged French district: a mixed methods study.

Low autopsy acceptance after stillbirth in a disadvantaged French district: a mixed methods study.

Journal: BMC pregnancy and childbirth

Published: May 07, 2018

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Journal: American journal of human genetics

Published: October 21, 2016

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Journal: Prenatal diagnosis

Published: July 07, 2016

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.

Journal: Journal of neuropathology and experimental neurology

Published: February 12, 2016

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.

Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.

Journal: The American journal of case reports

Published: December 17, 2015

Chronic histiocytic intervillositis: outcome, associated diseases and treatment in a multicenter prospective study.

Chronic histiocytic intervillositis: outcome, associated diseases and treatment in a multicenter prospective study.

Journal: Autoimmunity

Published: July 17, 2014

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.

Journal: Molecular cytogenetics

Published: June 11, 2014

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Journal: Pediatric radiology

Published: May 06, 2014

Do women from Seine-Saint-Denis have different prenatal care compared to other women in the region?

Do women from Seine-Saint-Denis have different prenatal care compared to other women in the region?

Journal: Journal de gynecologie, obstetrique et biologie de la reproduction

Published: November 30, 2013

Showing 1-12 of 18

Last Updated: 09/26/2026