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Brain MRI findings of older patients with Pallister-Killian syndrome

artículo científico publicado en 2005

Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene

artículo científico publicado en 2012

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

artículo científico publicado en 2005

Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy

artículo científico publicado en 2003

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

artículo científico publicado en 2011

Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

No sex differences in 18 trisomy births in the Kanagawa Birth Defects Monitoring Program

artículo científico publicado en 2004

On the Ring 13 Chromosome in a Malformed Infant with Special Regard to the Break Point

scholarly article

Paternal UPD14 is responsible for a distinctive malformation complex

artículo científico publicado en 2002

Premature thelarche in Rubinstein-Taybi syndrome

scientific article published on 01 April 2002

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

artículo científico publicado en 2002

Trends in occurrence of twin births in Japan

artículo científico publicado en 2011

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

scientific article published on 17 August 2020

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