Detalhe da pesquisa
1.
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.
Cytogenet Genome Res
; 153(1): 1-9, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073611
2.
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.
Am J Med Genet A
; 164A(8): 1899-908, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715670
3.
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome.
Hepatol Res
; 43(5): 569-75, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23045960
4.
Gas chromatographic-mass spectrometric determination of erythrocyte 3-deoxyglucosone in diabetic patients.
J Chromatogr B Analyt Technol Biomed Life Sci
; 776(1): 133-7, 2002 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-12127334
5.
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
Hum Hered
; 53(1): 42-4, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11901270