Filtros de búsqueda

Lista de obras de

Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis

artículo científico publicado en 2020

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations

artículo científico publicado en 2017

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

artículo científico publicado en 2016

Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

artículo científico publicado en 2018

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia

artículo científico publicado en 2019

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

artículo científico publicado en 2014

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses

scientific article published on 15 February 2014

Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome

artículo científico publicado en 2018

Noncoding copy-number variations are associated with congenital limb malformation.

artículo científico publicado en 2017

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

scientific article published on 29 May 2018

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

artículo científico publicado en 2016

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

scientific article published on 27 October 2013

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

artículo científico publicado en 2014

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

artículo científico publicado en 2016

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda