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A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

artículo científico publicado en 2017

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

artículo científico publicado en 2017

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

scientific article published on 10 September 2020

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

artículo científico publicado en 2021

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.

artículo científico publicado en 2017

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome

artículo científico publicado en 2020

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

artículo científico publicado en 2015

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

artículo científico publicado en 2018

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

artículo científico publicado en 2015

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