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Matthieu Egloff

5PUBLICATIONS
10CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)HaematologyDevelopmental genetics (incl. sex determination)Central nervous systemGene mapping
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Journal

Publications (5)

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|Feb 29, 2024
3q29 duplications: A cohort of 46 patients and a literature review.

Marie Massier, Martine Doco-Fenzy, Matthieu Egloff

|Jan 05, 2024
Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.

P Létard, R Wintjens, J Van-Gils

|Oct 05, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Guillaume Jouret, Matthieu Egloff, Emilie Landais

|Feb 26, 2022
Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.

Mathieu Thabault, Valentine Turpin, Alexandre Maisterrena

|Jul 08, 2020
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.

Tanguy Niclass, Gwenael Le Guyader, Claire Beneteau

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Frequent Collaborators

2 joint publications

Clémence Jacquin

1 joint publications

Tanguy Niclass

1 joint publications

Brigitte Gilbert-Dussardier

1 joint publications

Laurie Galvan

1 joint publications

Guillaume Jouret

1 joint publications

Paul Kuentz

1 joint publications

Chloé Angélini

1 joint publications

Marie Massier

1 joint publications

Geoffroy Delplancq

1 joint publications

Guillaume Jedraszak

Frequent Collaborators

2 joint publications

Clémence Jacquin

1 joint publications

Tanguy Niclass

1 joint publications

Brigitte Gilbert-Dussardier

1 joint publications

Laurie Galvan

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