Elizabeth Berry-Kravis to Pedigree
This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Pedigree.
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0.291
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Climbing the branches of a family tree: diagnosis of fragile X syndrome. J Pediatr. 2014 Jun; 164(6):1292-5.
Score: 0.123
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Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members. Am J Med Genet A. 2019 03; 179(3):503-506.
Score: 0.043
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865.
Score: 0.040
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X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol. 1994 Aug; 36(2):229-33.
Score: 0.032
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Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
Score: 0.023
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
Score: 0.016
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Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004 Jan 28; 291(4):460-9.
Score: 0.015