Pascaline Letard
Poitiers, France
Last Updated: 09/26/2026
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Found 14 publications
Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: July 06, 2026
Heterozygous alterations of GTF2I at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Journal: Journal of medical genetics
Published: November 05, 2024
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene.
Journal: Neurology. Genetics
Published: September 20, 2024
Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: November 07, 2023
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Journal: American journal of medical genetics. Part A
Published: July 22, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Journal: Brain : a journal of neurology
Published: June 28, 2022
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Journal: Journal of medical genetics
Published: November 16, 2020
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
Journal: Journal of medical genetics
Published: August 05, 2019
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Journal: European journal of medical genetics
Published: July 22, 2019
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
Journal: American journal of medical genetics. Part A
Published: April 16, 2018
Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.
Journal: Molecular syndromology
Published: February 15, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Journal: Journal of inherited metabolic disease
Published: February 11, 2018
Last Updated: 09/26/2026