Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00439-008-0479-7PMID 17676343
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2007cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2003cited by this paper
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  2002cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2000cited by this paper
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  1998cited by this paper
• A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

  1997cited by this paper
• MICRODISSECTION AND DOP‐PCR‐BASED REVERSE CHROMOSOME PAINTING AS A FAST AND RELIABLE STRATEGY IN THE ANALYSIS OF VARIOUS STRUCTURAL CHROMOSOME ABNORMALITIES

  1996cited by this paper
• Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome.

  1993cited by this paper
• Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome.

  1993cited by this paper
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  1992cited by this paper
• Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome.

  1991cited by this paper
• [Report on trisomies 18 and a trisomy 18 mosaicism].

  1965cited by this paper
• [Deficiency on the short arms of a chromosome No. 4].

  1965cited by this paper

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