This page shows the details of why an item matched the keywords from your search.
| Item Type | Name |
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Concept
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Chromosomes, Human, X
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Chromosome Aberrations
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Concept
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Chromosome Deletion
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Concept
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X Chromosome
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Chromosome Disorders
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Concept
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Chromosomes, Human, Pair 22
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Academic Article
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Progression of tremor and ataxia in male carriers of the FMR1 premutation.
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Academic Article
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Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
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Academic Article
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Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
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Academic Article
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X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
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Academic Article
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Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
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Academic Article
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Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.
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Academic Article
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X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
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Academic Article
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Academic Article
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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
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Academic Article
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
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Academic Article
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Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
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Academic Article
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Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
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Academic Article
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
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Academic Article
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Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
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Academic Article
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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
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Academic Article
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Updated consensus guidelines on the management of Phelan-McDermid syndrome.
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