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Fryns syndrome: A review of the phenotype and diagnostic guidelines

Slavotinek, A Slavotinek, A (correspondence author) 2004

American Journal of Medical Genetics Part A, Vol.124A(4), pp.427-433 [Peer Reviewed Journal]

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Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

Bregand-White, Julia ; Saller, Devereux ; Clemens, Michele ; Surti, Urvashi ; Yatsenko, Svetlana ; Rajkovic, Aleksandar Bregand-White, Julia (correspondence author)

American Journal of Medical Genetics Part A, September 2016, Vol.170(9), pp.2365-2371 [Peer Reviewed Journal]

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Weismann-Netter syndrome and mental retardation: A new patient and review of the literature

Peippo, Maarit ; Valanne, Leena ; Perhomaa, Marja ; Toivanen, Leena ; Ignatius, Jaakko Peippo, Maarit (correspondence author)

American Journal of Medical Genetics Part A, Nov 2009, Vol.149A(11), pp.2593-2601 [Peer Reviewed Journal]

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Phenotypic variability in trisomy 13 mosaicism: Two new patients and literature review

Griffith, Christopher ; Vance, Gail ; Weaver, David Griffith, Christopher (correspondence author)

American Journal of Medical Genetics Part A, Jun 2009, Vol.149A(6), pp.1346-1358 [Peer Reviewed Journal]

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Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature

Coffee, Bradford ; Ikeda, Morna ; Budimirovic, Dejan ; Hjelm, Lawrence ; Kaufmann, Walter ; Warren, Stephen Coffee, Bradford (correspondence author)

American Journal of Medical Genetics Part A, May 2008, Vol.146A(10), pp.1358-1367 [Peer Reviewed Journal]

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by this author/creator:

  1. Surti, Urvashi
  2. Toivanen, Leena
  3. Griffith, Christopher B
  4. Saller, Devereux N
  5. Bregand-White, Julia

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