Amale Achaiaa
Paris, France
Last Updated: 09/26/2026
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Found 8 publications
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Journal: Molecular genetics & genomic medicine
Published: January 30, 2023
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Journal: Birth defects research
Published: November 22, 2022
Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.
Journal: Brain : a journal of neurology
Published: June 14, 2022
Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature.
Journal: Birth defects research
Published: August 28, 2021
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Journal: Clinical genetics
Published: March 25, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Journal: American journal of medical genetics. Part A
Published: February 23, 2021
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Journal: Clinical genetics
Published: July 05, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026