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List of works by Sylvie Manouvrier-Hanu

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

scientific article

Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

scientific article published on 7 June 2017

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

scientific article published on 14 January 2008

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

scientific article

Difficulties adapting to Nail-Patella syndrome: A qualitative study of patients' perspectives

scientific article published on 16 July 2019

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

scientific article

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Mayer-Rokitansky-Künster-Hauser syndrome due to 2q12.1q14.1 deletion: PAX8 the causing gene?

scientific article published on 12 November 2019

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

scientific article published on 01 February 2009

Smith-Magenis syndrome (SMS): clinical and behavioral characteristics in a large retrospective cohort

scientific article published on 27 December 2020

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

scientific article published on 18 March 2015

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

scientific article

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