Laura Mary

Université de Rennes 1

France

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Articles (8)

Year:

2025

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Collaborators (5)

Sylvie Jaillard

FRANCE

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Anne Bergougnoux

Assistant Professor

University of Montpellier

FRANCE

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Severine Mazaud-Guittot

Université de Rennes 1

FRANCE

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Amélie Piton

associate professor

University of Strasbourg

FRANCE

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David Gilot

Associate Professor

Université de Rennes 1

FRANCE

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Laura Mary

Research Interests

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Articles (8)

Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency

Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples

Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

Pseudodicentric Chromosome Originating from an X-Autosome Translocation in a Male Patient with Cryptozoospermia

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

Collaborators (5)

Sylvie Jaillard

Anne Bergougnoux

Severine Mazaud-Guittot

Amélie Piton

David Gilot

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