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Publications by J F Mattei

Smith-Magenis Syndrome: A New Contiguous Gene Syndrome. Report of Three New Cases.

Journal of Medical Genetics

English

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Auditory Phenotype of Smith–Magenis Syndrome

Journal of Speech, Language, and Hearing Research

English

Mutations in RAI1 Associated With Smith–Magenis Syndrome

Nature Genetics

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Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Genome Research

English

Smith-Magenis Syndrome: Clinical Evaluation in Seven Brazilian Patients

Genetics and Molecular Research

Molecular Biology

English

Cognitive Functioning in Children and Adults With Smith-Magenis Syndrome

European Journal of Medical Genetics

English

OP08.05: Prenatal Diagnosis of Smith-Magenis Syndrome in Fetus With Mild Unilateral Borderline Ventriculomegaly: A Case Report

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Reversed Gender Ratio of Autism Spectrum Disorder in Smith-Magenis Syndrome

Molecular Autism

Developmental Neuroscience

Developmental Biology

Molecular Biology

English

Cellular and Clinical Report of New Griscelli Syndrome Type III Cases

Pigment Cell and Melanoma Research

Molecular Biology

English

Circadian Abnormalities in Mouse Models of Smith-Magenis Syndrome: Evidence for Involvement ofRAI1

American Journal of Medical Genetics, Part A

English