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John M. Optiz

Children's Hospital of Philadelphia

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Publication

Featured researches published by John M. Optiz.

American Journal of Medical Genetics | 1988

Multiple sclerosis: updated risks for relatives.

Adele D. Sadovnick; Patricia A. Baird; Richard H. Ward; John M. Optiz; James F. Reynolds

American Journal of Medical Genetics | 1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations

Judith G. Hall; Philip D. Pallister; Sterling K. Clarren; J. B. Beckwith; F. W. Wiglesworth; F. C. Fraser; S. Cho; Paul J. Benke; Susan D. Reed; John M. Optiz

American Journal of Medical Genetics | 1988

Verification of the fetal valproate syndrome phenotype

Holly H. Ardinger; Joan F. Atkin; R. Dwain Blackston; Louis J. Elsas; Sterling K. Clarren; Susan Livingstone; David B. Flannery; John M. Pellock; Mary Jo Harrod; Edward J. Lammer; Frank Majewski; Albert Schinzel; Helga V. Toriello; James W. Hanson; John M. Optiz; James F. Reynolds

American Journal of Medical Genetics | 1980

X-linked mental retardation: A study of 7 families

Patricia A. Jacobs; Thomas W. Glover; Martha Mayer; Patricia Fox; John W. Gerrard; Henry G. Dunn; Diana S. Herbst; John M. Optiz

American Journal of Medical Genetics | 1980

Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss

F.C. Fraser; J. Sproule; F. Halal; John M. Optiz

American Journal of Medical Genetics | 1980

Site‐specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

Elaine H. Zackai; Beverly S. Emanuel; John M. Optiz

American Journal of Medical Genetics | 1988

Decreased developmental stability as assessed by fluctuating asymmetry of morphometric traits in preterm infants.

Gregory Livshits; L. Davidi; Eugene Kobyliansky; Dan Ben-Amitai; Y. Levi; Paul Merlob; John M. Optiz; James F. Reynolds

American Journal of Medical Genetics | 1988

Update on counseling the family with a first‐degree relative with a congenital heart defect

James J. Nora; Audrey Hart Nora; John M. Optiz; James F. Reynolds

American Journal of Medical Genetics | 1988

Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?

Helga V. Toriello; Russel G. Graff; Michael F. Florentine; Samuel Lacina; W. David Moore; John M. Optiz; James F. Reynolds

American Journal of Medical Genetics | 1988

Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family

Bernard S. Kaplan; Paige Kaplan; Jean-Pierre de Chadarévian; Sigrid Jequier; Sean O'Regan; Pierre Russo; John M. Optiz; James F. Reynolds

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James F. Reynolds

Duke University

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Elaine H. Zackai

Children's Hospital of Philadelphia

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Judith G. Hall

University of Washington

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Patricia A. Baird

University of British Columbia

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Beverly S. Emanuel

Children's Hospital of Philadelphia

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David A. Luthy

University of Washington

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Helga V. Toriello

Spectrum Health

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Iosif W. Lurie

University of Maryland

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James W. Hanson

University of Iowa

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Louis J. Elsas

University of Miami

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