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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

artículo científico publicado en 2011

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

artículo científico publicado en 2012

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

artículo científico

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

artículo científico publicado en 2011

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

artículo científico publicado en 2010

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

artículo científico publicado en 2014

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

artículo científico publicado en 2013

New insights into genotype-phenotype correlation for GLI3 mutations

artículo científico publicado en 2014

Pierre Robin Sequence: A series of 117 consecutive cases

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

scientific article published on 01 February 2009

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

artículo científico publicado en 2015

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

artículo científico publicado en 2011

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