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Berry-Kravis, Elizabeth
One or more keywords matched the following items that are connected to Berry-Kravis, Elizabeth
Item TypeName
Concept Chromosomes, Human, Pair 16
Concept Chromosomes, Human, Pair 4
Concept Chromosome Aberrations
Concept Chromosome Deletion
Concept X Chromosome
Concept Chromosomes, Human, Pair 9
Concept Chromosome Disorders
Concept Chromosomes, Human, Pair 22
Academic Article Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Academic Article X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
Academic Article Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
Academic Article Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.
Academic Article X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
Academic Article Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Academic Article Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
Academic Article Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
Academic Article Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
Academic Article Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Academic Article Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
Academic Article Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Search Criteria
  • Chromosomes Human Pair 7