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1.
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipation.
J Hum Genet;
68(12): 875-878, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37592133
2.
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet;
68(10): 689-697, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37308565
3.
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Brain;
145(3): 1139-1150, 2022 04 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-35355059
4.
Care needs of Japanese men for sexual dysfunction associated with prostate cancer treatment.
Support Care Cancer;
31(7): 378, 2023 Jun 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37273083
5.
Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype.
Genomics;
114(5): 110469, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36041634
6.
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
J Hum Genet;
67(3): 169-173, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34531528
7.
Suppression of Local Tumor Progression in Perivascular Hepatocellular Carcinoma by Combination Therapy with Radiofrequency Ablation and Percutaneous Ethanol Injection: A Propensity Score Matching Analysis.
Oncology;
100(6): 303-312, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35114665
8.
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Brain;
144(4): 1103-1117, 2021 05 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33791773
9.
Sexual dysfunction associated with prostate cancer treatment in Japanese men: a qualitative research.
Support Care Cancer;
30(4): 3201-3213, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34973097
10.
Multiple focal fatty changes in the liver in patients with porphyria cutanea tarda: A case series and review of the literature.
J Clin Ultrasound;
50(6): 832-842, 2022 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-34882818
11.
Long-Term Effects of Rifaximin on Patients with Hepatic Encephalopathy: Its Possible Effects on the Improvement in the Blood Ammonia Concentration Levels, Hepatic Spare Ability and Refractory Ascites.
Medicina (Kaunas);
58(9)2022 Sep 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36143954
12.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat;
42(1): 50-65, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33131168
13.
Irsogladine maleate alters expression of a tight junction protein in portal hypertensive gastropathy.
J Gastroenterol Hepatol;
36(5): 1208-1215, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-32926748
14.
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
Ann Neurol;
86(6): 962-968, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31433517
15.
Reduction in Tumor Stain at 2 Weeks after Treatment Initiation Is a Predictor of the Efficacy of Lenvatinib in Patients with Unresectable Hepatocellular Carcinoma.
Oncology;
98(11): 779-786, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32877911
16.
The Efficacy and Therapeutic Outcome of Bipolar Radiofrequency Ablation for the Treatment for Hepatocellular Carcinoma in the Real-World Setting, Compared with Monopolar Radiofrequency Ablation Conducted during the Same Period.
Oncology;
98(12): 859-868, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32799203
17.
IL28B gene polymorphism is correlated with changes in low-density lipoprotein cholesterol levels after clearance of hepatitis C virus using direct-acting antiviral treatment.
J Gastroenterol Hepatol;
34(11): 2019-2027, 2019 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-31144350
18.
Supporting elder persons in rural Japanese communities through preventive home visits by nursing students: A qualitative descriptive analysis of students' reports.
Public Health Nurs;
36(4): 557-563, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30847988
19.
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Brain;
144(8): e67, 2021 Sep 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34037746
20.
Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".
Ann Neurol;
88(3): 642-643, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32542787