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Publications by S. Cabet

EP08.02: Cerebral Imaging Features of a New Syndromic Entity Related to KIAA1109 Loss-Of-Function Variants

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

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TBL1Y: A New Gene Involved in Syndromic Hearing Loss

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Variants of Meningiomas: A Review of Imaging Findings and Clinical Features

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Genotype-Phenotype Correlation Analysis of MYO15A Variants in Autosomal Recessive Non-Syndromic Hearing Loss

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

American Journal of Human Genetics

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

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Memory Function Related to Hippocampal Imaging Findings

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Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function

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Multiple Loss-Of-Function Variants of Taste Receptors in Modern Humans

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A Genotypic Ascertainment Approach to Refute the Association of MYO1A Variants With Non-Syndromic Deafness

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