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List of works by Pauline Marzin

A 14q distal chromoanagenesis elucidated by whole genome sequencing

scientific article published on 25 September 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 01 August 2019

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

scientific article published in October 2018

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases

scientific article published on 21 October 2020

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions

scientific article published on 15 July 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

scientific article published on 12 September 2018

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers

scientific article published on 27 June 2017

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

scientific article published on 23 October 2019

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