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Berry-Kravis, Elizabeth
One or more keywords matched the following items that are connected to
Berry-Kravis, Elizabeth
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Concept
Pedigree
Academic Article
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
Academic Article
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Academic Article
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Academic Article
Climbing the branches of a family tree: diagnosis of fragile X syndrome.
Academic Article
X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
Academic Article
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Academic Article
Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
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Pedigree