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List of works by Florence Amblard

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

scientific article published on 17 October 2018

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

scientific article published on 06 November 2015

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.

scientific article published on December 2016

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

scientific article published on 7 March 2017

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

scientific article

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