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Ann Cm Smith

Boston Children's Hospital

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Publication

Featured researches published by Ann Cm Smith.

American Journal of Medical Genetics | 1986

Interstitial deletion of (17)(p11.2p11.2) in nine patients

Ann Cm Smith; Loris McGavran; Jeannie Robinson; Gail Waldstein; Jean Macfarlane; Jon Zonona; Jacob A. Reiss; Martin Lahr; Leland Allen; Ellen Magenis; John M. Opitz; James F. Reynolds

American Journal of Medical Genetics | 1984

Consideration of connective tissue dysfunction in the fragile X syndrome

Randi J. Hagerman; Karen Van Housen; Ann Cm Smith; Loris McGavran; John M. Opitz

American Journal of Human Genetics | 1993

Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.

Dianna M. Milewicz; Aaron Witz; Ann Cm Smith; David K. Manchester; Gail Waldstein; Peter H. Byers

JAMA Pediatrics | 1986

The CHARGE Association: How Well Can They Do?

Edward Goldson; Ann Cm Smith; Janet M. Stewart

JAMA Pediatrics | 1988

Institutional screening for the fragile X syndrome

Randi J. Hagerman; Rebecca Berry; A. W Jackson; Julianne Campbell; Ann Cm Smith; Loris McGavran

American Journal of Medical Genetics | 1992

Monozygotic twin girls with congenital malformations resembling Fanconi anemia

Steven R. Poole; Ann Cm Smith; Taru Hays; Loris McGavran; Arleen D. Auerbach

Archive | 2012

Figure 3. [Adolescent females with Smith-Magenis syndrome...].

Ann Cm Smith; Kerry E Boyd; Sarah H Elsea; Brenda Finucane; Barbara Haas-Givler; Andrea Gropman; Gonzalo Laje; Ellen Magenis; Lorraine Potocki

Archive | 2012

Table 2. [Clinical Features of Smith-Magenis Syndrome].

Ann Cm Smith; Kerry E Boyd; Sarah H Elsea; Brenda Finucane; Barbara Haas-Givler; Andrea Gropman; Gonzalo Laje; Ellen Magenis; Lorraine Potocki

Archive | 2012

Figure 1. [Infants with SMS. Female age...].

Ann Cm Smith; Kerry E Boyd; Sarah H Elsea; Brenda Finucane; Barbara Haas-Givler; Andrea Gropman; Gonzalo Laje; Ellen Magenis; Lorraine Potocki

Archive | 2012

Figure 2. [Early school-age SMS showing male...].

Ann Cm Smith; Kerry E Boyd; Sarah H Elsea; Brenda Finucane; Barbara Haas-Givler; Andrea Gropman; Gonzalo Laje; Ellen Magenis; Lorraine Potocki

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Collaboration

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Ellen Magenis

Oregon Health

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Andrea Gropman

Children's National Medical Center

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Gonzalo Laje

National Institutes of Health

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Lorraine Potocki

Baylor College of Medicine

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Sarah H Elsea

Baylor College of Medicine

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Loris McGavran

University of Colorado Denver

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Gail Waldstein

Boston Children's Hospital

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John M. Opitz

University of Wisconsin-Madison

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Randi J. Hagerman

University of California

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A. W Jackson

Boston Children's Hospital

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