Literature DB >> 15940686

Prenatal death in Smith-Lemli-Opitz/RSH syndrome.

Angelica R Putnam, Juliana G Szakacs, John M Opitz, Janice L B Byrne.   

Abstract

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Year:  2005        PMID： 15940686     DOI： 10.1002/ajmg.a.30246

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

Authors:  I Blahakova; E Makaturova; L Kotrbova; M Soukupova; J Lastuvkova; L Kozak
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

2.  Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Authors:  J L Cross; J Iben; C L Simpson; A Thurm; S Swedo; E Tierney; J E Bailey-Wilson; L G Biesecker; F D Porter; C A Wassif
Journal:  Clin Genet       Date:  2014-06-06       Impact factor: 4.438

3.  Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Authors:  Ryan W Y Lee; Sandra K Conley; Andrea Gropman; Forbes D Porter; Eva H Baker
Journal:  Am J Med Genet A       Date:  2013-08-05       Impact factor: 2.802

4.  Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Authors:  Gabriel A Lazarin; Imran S Haque; Eric A Evans; James D Goldberg
Journal:  Prenat Diagn       Date:  2017-03-09       Impact factor: 3.050
  4 in total

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