Detalhe da pesquisa
1.
Patient survey on cancer genomic medicine in Japan under the national health insurance system.
Cancer Sci
; 115(3): 954-962, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38273803
2.
Human resources for administrative work to carry out a comprehensive genomic profiling test in Japan.
Cancer Sci
; 114(7): 3041-3049, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165760
3.
Nonsyndromic arteriopathy and aortopathy and vascular Ehlers-Danlos syndrome causing COL3A1 variants.
Am J Med Genet A
; 188(9): 2777-2782, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35543214
4.
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Mol Genet Metab Rep
; 33: 100912, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061954
5.
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Arch Dis Child Fetal Neonatal Ed
; 107(3): 329-334, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625524
6.
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Sci Rep
; 11(1): 3531, 2021 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33574353
7.
Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology.
Mol Genet Metab Rep
; 24: 100601, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32455116
8.
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Orphanet J Rare Dis
; 15(1): 169, 2020 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703289
9.
Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.
Sci Rep
; 11(1): 22682, 2021 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34785734