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Fetal alcohol spectrum disorders: Extending the range of structural defects

01 January 2010

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

01 January 2010

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

01 January 2010

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

01 January 2010

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)

01 January 2010

Esophageal atresia in the Goldenhar syndrome

01 January 2010

Digestive malformations and their associations to syndrome condition and genetic defects

01 January 2010

New ocular findings in two sisters with Yunis-Varón syndrome and literature review

01 January 2010

The importance of rare diseases: from the gene to society

01 January 2010

Cornelia de Lange syndrome: extending the physical and psychological phenotype

01 January 2010

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