Leila Ghesh

Nantes, France

Last Updated: 09/26/2026

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Found 9 publications

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.

Journal: Clinical genetics
Published: September 30, 2025

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Journal: Prenatal diagnosis
Published: April 17, 2024

NOTCH2 related disorders: Description and review of the fetal presentation.

NOTCH2 related disorders: Description and review of the fetal presentation.

Journal: European journal of medical genetics
Published: October 11, 2022

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.

Journal: Clinical genetics
Published: October 06, 2022

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.

A Gardos channelopathy associated with nonimmune hydrops and fetal loss.

Journal: Clinical genetics
Published: June 23, 2022

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Journal: Clinical genetics
Published: April 12, 2021

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Journal: Neurogenetics
Published: January 19, 2021

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder.

Journal: Human mutation
Published: July 31, 2020

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

Journal: American journal of medical genetics. Part A
Published: October 18, 2018
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Last Updated: 09/26/2026