Detalhe da pesquisa
1.
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.
Mol Genet Genomic Med
; 8(8): e1321, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32533764
2.
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Sci Rep
; 10(1): 6213, 2020 04 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32277154
3.
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
N Engl J Med
; 346(4): 243-9, 2002 Jan 24.
Artigo
Inglês
| MEDLINE | ID: mdl-11807148
4.
Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.
Hum Mutat
; 23(2): 160-169, 2004 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-14722919
5.
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
Eur J Hum Genet
; 10(8): 457-61, 2002 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-12111639
6.
Insulin gene variable number of tandem repeats regulatory polymorphism is not associated with hyperandrogenism in Spanish women.
Fertil Steril
; 77(4): 666-8, 2002 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-11937112
7.
A highly sensitive genetic protocol to detect NF1 mutations.
J Mol Diagn
; 13(2): 113-22, 2011 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-21354044
8.
Detección de la deleción F508 del gen CFTR por la técnica de mutagénesis dirigida mediante PCR en pacientes con enfermedad fibroquística / Detection of F508 Deletion in the CFTR Gene by PCR Directed Mutagenesis in Patients with fibrocystic Ddsease
Pediatr. (Asunción)
; 39(1): 33-37, abr. 2012. tab, graf
Artigo
Espanhol
| LILACS, BDNPAR | ID: lil-648895
9.
G12S and H50R variations are polymorphisms in the SDHD gene.
Genes Chromosomes Cancer
; 37(2): 220-1, 2003 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-12696072