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Miyatake, Satoko
272  results:
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1

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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2

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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3

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion i..:

Matsushima, Masaaki ; Yaguchi, Hiroaki ; Koshimizu, Eriko...
Journal of Neurology.  271 (2024)  6 - p. 3643-3647 , 2024
Link: https://doi.org/10.1007/..
 
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4

A case of Bloom syndrome manifesting with therapy-related m..:

Ohashi, Takuma ; Kunimoto, Hiroyoshi ; Nukui, Jun...
International Journal of Hematology.  119 (2024)  5 - p. 603-607 , 2024
Link: https://doi.org/10.1007/..
 
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5

Hypohidrotic ectodermal dysplasia with influenza-associated..:

Yoshida, Takanobu ; Kido, Jun ; Ogata, Mika...
Brain and Development Case Reports.  2 (2024)  2 - p. 100018 , 2024
Link: https://doi.org/10.1016/..
 
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6

A Novel Mutation of VPS13D-related Disorders with Parkinson..:

Harada, Shizuka ; Azuma, Yoshiteru ; Misumi, Yohei...
Internal Medicine.  , 2024
Link: https://doi.org/10.2169/..
 
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7

Reduced histone H3K4 trimethylation in oral mucosa of patie..:

Sugeno, Naoto ; Kumada, Satoko ; Kashii, Hirofumi...
Parkinsonism & Related Disorders.  124 (2024)  - p. 107018 , 2024
Link: https://doi.org/10.1016/..
 
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8

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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9

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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10

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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11

An integrated genetic analysis of epileptogenic brain malfo..:

Fujita, Atsushi ; Kato, Mitsuhiro ; Sugano, Hidenori...
Acta Neuropathologica Communications.  11 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Prevalence of repeat expansions causing autosomal dominant ..:

Mizushima, Keiichi ; Shibata, Yuka ; Shirai, Shinichi...
Journal of Human Genetics.  69 (2023)  1 - p. 27-31 , 2023
Link: https://doi.org/10.1038/..
 
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13

A case of early-infantile onset, rapidly progressive leukoe..:

Kodama, Kazuo ; Aoyama, Hiromi ; Murakami, Yoshimi...
Radiology Case Reports.  18 (2023)  3 - p. 1217-1220 , 2023
Link: https://doi.org/10.1016/..
 
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14

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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15

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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