Detalhe da pesquisa
1.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015437
2.
Establishment of FXS-A9 panel with a single human X chromosome from fragile X syndrome-associated individual.
Exp Cell Res
; 398(2): 112419, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33296661
3.
Online questionnaire on genetic testing for intractable diseases in Japan: response to and issues associated with the revised medical care act.
J Hum Genet
; 66(11): 1043-1051, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059779
4.
Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome.
Neuropathology
; 41(1): 58-64, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33181865
5.
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Neuropathology
; 40(4): 379-388, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219895
6.
[Successful treatment with enzyme replacement therapy for pelvic fragile fracture in an elderly case of type I Gaucher's disease].
Rinsho Ketsueki
; 61(12): 1654-1659, 2020.
Artigo
em Japonês
| MEDLINE | ID: mdl-33441516
7.
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report.
BMC Neurol
; 18(1): 117, 2018 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30119649
8.
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
Am J Med Genet A
; 170A(5): 1278-82, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26789537
9.
[Mother and son with enlarged parietal foramina, persistent fetal vein, and ALX4 mutation].
No To Hattatsu
; 48(3): 205-8, 2016 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-27349084
10.
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
Clin Endocrinol (Oxf)
; 83(6): 834-41, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25866162
11.
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy case.
Neuropathology
; 34(1): 49-57, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23711246
12.
Acute localized exanthematous pustulosis caused by a herbal medicine, dai-kenchu-to.
Contact Dermatitis
; 79(4): 257-259, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014493
13.
Association of IL-4 with pachychoroid neovasculopathy.
Sci Rep
; 13(1): 1152, 2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670145
14.
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.
Yonago Acta Med
; 66(4): 463-466, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38028263
15.
CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease.
Neurology
; 100(10): e1009-e1019, 2023 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36517236
16.
Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.
Hum Genome Var
; 9(1): 14, 2022 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35581197
17.
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in ß-galactosidase deficiency.
Hum Mutat
; 32(7): 843-52, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21520340
18.
Gastric adenocarcinoma with rhabdoid morphology.
Gastric Cancer
; 14(3): 290-4, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21409519
19.
Cord Blood from SGA Preterm Infants Exhibits Increased GLUT4 mRNA Expression.
Yonago Acta Med
; 64(1): 57-66, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33642904
20.
A case of infantile Tay-Sachs disease with late onset spasms.
Brain Dev
; 43(5): 661-665, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483101