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List of works by Anne Guimier

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis

scientific article published on 19 April 2019

ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome

scientific article

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

scientific journal article

Clinical characteristics and outcome of patients with neuroblastoma presenting genomic amplification of loci other than MYCN.

scientific article

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.

scientific article

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

scientific journal article

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion

scientific article published on 24 March 2014

Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations

scientific article published on 16 September 2015

Un gène codant une métalloprotéase impliqué dans l’hétérotaxie

article

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