Literature DB >> 8825058

Detection of a familial cryptic translocation by fluorescent in situ hybridisation.

D P Smith, M Floyd, B Say.   

Abstract

Mesh:

Year:  1996        PMID: 8825058      PMCID: PMC1051821          DOI: 10.1136/jmg.33.1.84

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  1 in total

1.  Familial half cryptic translocation t(9;17).

Authors:  A Köhler; J Hain; U Müller
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

  1 in total
  4 in total

1.  A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation.

Authors:  S R Ghaffari; E Boyd; J L Tolmie; Y J Crow; A H Trainer; J M Connor
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

2.  The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

Authors:  A Slavotinek; E Maher; P Gregory; P Rowlandson; S M Huson
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

3.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors:  K Phelan; H E McDermid
Journal:  Mol Syndromol       Date:  2011-11-22

4.  Phelan-McDermid syndrome: a classification system after 30 years of experience.

Authors:  Katy Phelan; Luigi Boccuto; Craig M Powell; Tobias M Boeckers; Conny van Ravenswaaij-Arts; R Curtis Rogers; Carlo Sala; Chiara Verpelli; Audrey Thurm; William E Bennett; Christopher J Winrow; Sheldon R Garrison; Roberto Toro; Thomas Bourgeron
Journal:  Orphanet J Rare Dis       Date:  2022-01-29       Impact factor: 4.303

  4 in total

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