Anne C. Tabet
Paris, France
Last Updated: 09/26/2026
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Found 9 publications
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
Journal: European journal of medical genetics
Published: December 12, 2022
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Journal: European journal of human genetics : EJHG
Published: June 28, 2020
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Journal: American journal of human genetics
Published: September 23, 2019
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Journal: Journal of medical genetics
Published: March 26, 2018
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Journal: Prenatal diagnosis
Published: February 17, 2015
Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Journal: Clinical case reports
Published: September 10, 2013
Application of a new molecular technique for the genetic evaluation of products of conception.
Journal: Prenatal diagnosis
Published: November 22, 2012
Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication.
Journal: American journal of medical genetics. Part A
Published: November 06, 2011
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Last Updated: 09/26/2026