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Uchiyama, Satoko
154  results:
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1

Frequency down-conversion of terahertz waves at optically i..:

Takano, Keisuke ; Uchiyama, Satoko ; Nagase, Shintaro...
Nanophotonics.  13 (2024)  17 - p. 3077-3089 , 2024
Link: https://doi.org/10.1515/..
 
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2

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a..:

Inoue, Yuta ; Tsuchida, Naomi ; Kim, Chong Ae...
Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Detection of hidden intronic DDC variant in aromatic L-amin..:

Koshimizu, Eriko ; Kato, Mitsuhiro ; Misawa, Kazuharu...
Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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4

Skeletal Muscle-Derived Stem Cell Transplantation Accelerat..:

Tamaki, Tetsuro ; Natsume, Toshiharu ; Katoh, Akira...
Biomolecules.  14 (2024)  8 - p. 939 , 2024
Link: https://doi.org/10.3390/..
 
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5

Assessing the ability of the Cancer and Aging Research Grou..:

Uchiyama, Masanobu ; Miyazaki, Motoyasu ; Hayashi, Toshinobu...
Journal of Geriatric Oncology.  15 (2024)  6 - p. 101814 , 2024
Link: https://doi.org/10.1016/..
 
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6

Recurrence of an extracranial internal carotid artery aneur..:

Shomura, Keijiro ; Kamide, Tomoya ; Uno, Takehiro...
Journal of Neurosurgery: Case Lessons.  7 (2024)  2 - p. , 2024
Link: https://doi.org/10.3171/..
 
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7

Complex chromosomal 6q rearrangements revealed by combined ..:

Ohori, Sachiko ; Numabe, Hironao ; Mitsuhashi, Satomi...
Genomics.  116 (2024)  5 - p. 110894 , 2024
Link: https://doi.org/10.1016/..
 
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8

Correction: A novel homozygous CHMP1A variant arising from ..:

Sakamoto, Masamune ; Shiiki, Toshihide ; Matsui, Shuji...
Journal of Human Genetics.  68 (2023)  4 - p. 299-299 , 2023
Link: https://doi.org/10.1038/..
 
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9

A heterozygous germline deletion within USP8 causes severe ..:

Sakamoto, Masamune ; Kurosawa, Kenji ; Tanoue, Koji...
Journal of Human Genetics.  69 (2023)  2 - p. 85-90 , 2023
Link: https://doi.org/10.1038/..
 
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10

Genome-wide identification of tandem repeats associated wit..:

Hamanaka, Kohei ; Yamauchi, Daisuke ; Koshimizu, Eriko...
Genome Research.  33 (2023)  3 - p. 435-447 , 2023
Link: https://doi.org/10.1101/..
 
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11

Three KINSSHIP syndrome patients with mosaic and germline A..:

Inoue, Yuta ; Tsuchida, Naomi ; Okamoto, Nobuhiko...
Clinical Genetics.  103 (2023)  5 - p. 590-595 , 2023
Link: https://doi.org/10.1111/..
 
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12

Long-read sequencing revealing intragenic deletions in exom..:

Fukuda, Hiromi ; Mizuguchi, Takeshi ; Doi, Hiroshi...
Journal of Human Genetics.  68 (2023)  10 - p. 689-697 , 2023
Link: https://doi.org/10.1038/..
 
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13

Publisher Correction: A novel NONO variant that causes deve..:

Itai, Toshiyuki ; Sugie, Atsushi ; Nitta, Yohei...
Scientific Reports.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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14

Novel missense variants cause intermediate phenotypes in th..:

Utsuno, Yasuhiro ; Hamada, Keisuke ; Hamanaka, Kohei...
Journal of Human Genetics.  69 (2023)  2 - p. 69-77 , 2023
Link: https://doi.org/10.1038/..
 
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15

Differentiation Capacity of Porcine Skeletal Muscle-Derived..:

Tamaki, Tetsuro ; Natsume, Toshiharu ; Katoh, Akira...
International Journal of Molecular Sciences.  24 (2023)  12 - p. 9862 , 2023
Link: https://doi.org/10.3390/..
 
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