Marie-pierre P. Cordier

Groupement Hospitalier Est, HCL
Bron, France

Last Updated: 09/26/2026

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Found 30 publications

Growth charts in Kabuki syndrome 1.

Growth charts in Kabuki syndrome 1.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Journal: American journal of human genetics

Published: September 07, 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Journal: Journal of human genetics

Published: July 15, 2019

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

Journal: Journal of medical genetics

Published: October 02, 2018

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Journal: American journal of human genetics

Published: February 23, 2018

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Journal: European journal of human genetics : EJHG

Published: October 10, 2017

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Journal: Birth defects research

Published: July 21, 2017

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

Journal: American journal of human genetics

Published: July 10, 2017

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 01, 2017

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.

Journal: Pediatric research

Published: August 08, 2016

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Journal: Journal of inherited metabolic disease

Published: January 29, 2016

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.

Journal: Journal of human genetics

Published: November 11, 2015

Showing 1-12 of 30

Last Updated: 09/26/2026