Literature DB >> 17449858

Dysmorphology demystified.

William Reardon1, Dian Donnai.   

Abstract

Mesh：

Year:  2007        PMID： 17449858      PMCID： PMC2675338          DOI： 10.1136/adc.2006.110619

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN： 1359-2998            Impact factor:   5.747


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  30 in total

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4.  Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

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7.  Phenotypic abnormalities: terminology and classification.

Authors:  Johannes H M Merks; Clara D M van Karnebeek; Hubert N Caron; Raoul C M Hennekam
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8.  Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study.

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9.  Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

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10.  Mutations in RAI1 associated with Smith-Magenis syndrome.

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4.  Dysmorphology at a distance: results of a web-based diagnostic service.

Authors:  S Douzgou; J Clayton-Smith; S Gardner; R Day; P Griffiths; K Strong
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5.  Atypical face shape and genomic structural variants in epilepsy.

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  5 in total

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