Publications and ressources

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

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Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

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A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

Sven KRACKER, Romane THOUENON

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DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

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Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge-Weber syndrome

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Clinicopathological and molecular characterization of three cases classified by DNA-methylation profiling as "Glioneuronal Tumors, NOS, Subtype A"

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Radiogenomics of diffuse intrinsic pontine gliomas (DIPGs): correlation of histological and biological characteristics with multimodal MRI features

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CT and Multimodal MR Imaging Features of Embryonal Tumors with Multilayered Rosettes in Children

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Cerebral blood flow changes after radiation therapy identifies pseudoprogression in diffuse intrinsic pontine gliomas

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Multimodal Magnetic Resonance Imaging of Treatment-Induced Changes to Diffuse Infiltrating Pontine Gliomas in Children and Correlation to Patient Progression-Free Survival

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Neuroimaging evidence of brain abnormalities in mastocytosis

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Focal Areas of High Signal Intensity in Children with Neurofibromatosis Type 1: Expected Evolution on MRI

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Arterial Spin Labeling and Central Precocious Puberty

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High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

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Landmarks of human embryonic development inscribed in somatic mutations

Sara Bizzotto

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