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Elizabeth M. Cherniske

Yale University

7

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622

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Multisystem study of 20 older adults with Williams syndrome

2004 American Journal of Medical Genetics Part A
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Truncating mutations in FOXC2 cause multiple lymphedema syndromes.

2001 Human Molecular Genetics
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Novel and recurrent mutations in lamin A/C in patients with Emery‐Dreifuss muscular dystrophy

2001 American Journal of Medical Genetics
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Early puberty in Williams syndrome.

1999 Clinical Dysmorphology
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Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?

1998 Journal of Medical Genetics
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Citations (46)