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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
- Published in:
- Human Genetics, 2009, v. 125, n. 1, p. 29, doi. 10.1007/s00439-008-0598-1
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- Publication type:
- Article
Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations.
- Published in:
- Human Genetics, 2002, v. 110, n. 3, p. 257, doi. 10.1007/s00439-002-0681-y
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- Publication type:
- Article
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
- Published in:
- Human Genetics, 2001, v. 108, n. 3, p. 222, doi. 10.1007/s004390000452
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- Article
Molecular testing for fragile x: analysis of 5062 tests from 1105 fragile x families-performed in 12 clinical laboratories in Spain.
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- 2014
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- Publication type:
- Journal Article
Molecular Testing for Fragile X: Analysis of 5062 Tests from 1105 Fragile X Families--Performed in 12 Clinical Laboratories in Spain.
- Published in:
- BioMed Research International, 2014, v. 2014, p. 1, doi. 10.1155/2014/195793
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- Publication type:
- Article
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 267, doi. 10.1007/s10048-012-0335-8
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- Publication type:
- Article
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 888, doi. 10.1038/ejhg.2008.30
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- Publication type:
- Article
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08548-9
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- Publication type:
- Article
Monozygotic twins with Neurofibromatosis type1, concordant phenotype and synchronousdevelopment of MPNST and metastasis.
- Published in:
- BMC Cancer, 2010, v. 10, p. 407, doi. 10.1186/1471-2407-10-407
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- Publication type:
- Article
Molecular Analysis of the SMN and NAIP Genes in Spanish Spinal Muscular Atrophy (SMA) Families and Correlation between Number of Copies of cBCD541 and SMA Phenotype.
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- Human Molecular Genetics, 1996, v. 5, n. 2, p. 257, doi. 10.1093/hmg/5.2.257
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- Publication type:
- Article
Functional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating Splicing.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141735
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- Publication type:
- Article