Charlotte Mechler
Paris, France
Last Updated: 09/26/2026
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Found 11 publications
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Journal: Birth defects research
Published: April 14, 2021
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A.
Journal: Human mutation
Published: November 13, 2019
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
Journal: Human molecular genetics
Published: February 20, 2019
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Journal: Prenatal diagnosis
Published: January 27, 2019
Whole exome sequencing diagnoses the first fetal case of Bainbridge-Ropers syndrome presenting as pontocerebellar hypoplasia type 1.
Journal: Birth defects research
Published: July 11, 2017
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Journal: American journal of medical genetics. Part A
Published: April 25, 2017
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
Journal: Birth defects research
Published: April 24, 2017
Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.
Journal: Prenatal diagnosis
Published: July 07, 2016
Fetal phenotype associated with the 22q11 deletion.
Journal: American journal of medical genetics. Part A
Published: October 07, 2013
Link between adipose tissue angiogenesis and fat accumulation in severely obese subjects.
Journal: The Journal of clinical endocrinology and metabolism
Published: March 16, 2012
Showing 1-11 of 11
Last Updated: 09/26/2026