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Fran Annese

University of Alabama at Birmingham

16

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888

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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

2020 Molecular Genetics & Genomic Medicine
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Citations (3)
Biliary Tract Disease in Girls and Young Women with Rett Syndrome

2019 Journal of Pediatric Gastroenterology and Nutrition
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When Rett syndrome is due to genes other than MECP2

2018
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Age of Diagnosis in Rett Syndrome: Patterns of Recognition Among Diagnosticians and Risk Factors for Late Diagnosis

2015 Pediatric Neurology
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Developmental delay in Rett syndrome: data from the natural history study.

2014 Journal of Neurodevelopmental Disorders
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Growth failure and outcome in Rett syndrome: Specific growth references

2012 Neurology
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Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.

2012 Journal of Pediatric Gastroenterology and Nutrition
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Longevity in Rett Syndrome: Analysis of the North American Database

2010 The Journal of Pediatrics
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Epilepsy and the natural history of Rett syndrome

2010 Neurology
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Rett syndrome diagnostic criteria: Lessons from the Natural History Study

2010 Annals of Neurology
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Citations (92)