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Maria L. Helgeson
Maria L. Helgeson
Children's Memorial Hospital
Genetics
Biology
Fabry disease
Newborn screening
Diabetes mellitus
2
Papers
32
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Newborn screening for Fabry disease leads to diagnosis in a symptomatic maternal relative
2013
Molecular Genetics and Metabolism
Shanna Widera
Joel Charrow
Barbara K. Burton
Maria L. Helgeson
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Distinctive phenotype in 9 patients with deletion of chromosome 1q24‐q25
2011
American Journal of Medical Genetics Part A
Deepika D Cunha Burkardt
Jill A. Rosenfeld
Maria L. Helgeson
Brad Angle
V. Banks
Wendy Smith
Karen W. Gripp
Jessica Moline
Rocio Moran
Dmitriy Niyazov
Cathy A. Stevens
Elaine H. Zackai
Robert Roger Lebel
Douglas G. Ashley
Nancy Kramer
Ralph S. Lachman
John M. Graham
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Citations (32)
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