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List of works by Miguel Fernandez-Burriel

A simple method of screening for the common connexin-26 gene 35delG mutation in nonsyndromic neurosensory autosomal recessive deafness

scientific article published on 01 January 2003

Adult cystic fibrosis: new clinical presentations

scientific article published on April 26, 2003

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

scientific article published on 02 March 2012

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

scientific article published in Scientific Reports

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

scientific article published on 3 December 2008

Paroxysmal stereotypy-tic-dystonia syndrome

scientific article published on April 16, 2003

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria

scientific article published on 5 August 2011

Severe clinical presentation of protein C deficiency in a type I/II compound heterozygote newborn

scientific article published on 01 July 2005

The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B

scientific article published on 01 March 2003

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization ⬇️

scientific article published on September 23, 2010

[Familial Pitt-Rogers-Danks: two new cases]

scientific article published on 01 September 2001

[Molecular diagnosis of adult dominant polycystic kidney disease in the Canary Islands]

scientific article published on 01 January 2006

[Thyroid function in the aged admitted to a nursing home]

scientific article published on 01 January 2000

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