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Matsumoto, Naomichi
1040  results:
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1

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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2

A female case of L1 syndrome that may have developed due to..:

Mori, Tatsuo ; Nakano, Mutsuki ; Tayama, Takahiro...
Brain and Development.  46 (2024)  6 - p. 230-233 , 2024
Link: https://doi.org/10.1016/..
 
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3

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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4

High-risk pathogenic germline variants in blood relatives o..:

Yoshida, Reiko ; Kaneyasu, Tomoko ; Ueki, Arisa...
Breast Cancer.  , 2024
Link: https://doi.org/10.1007/..
 
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5

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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6

Case report: Neuronal intranuclear inclusion disease initia..:

Lee, Gha-Hyun ; Jung, Eugene ; Jung, Na-Yeon...
Frontiers in Neurology.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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7

An adolescent case of ASXL3-related disorder with delayed o..:

Arai, Yuto ; Okanishi, Tohru ; Okazaki, Tetsuya...
BMC Pediatrics.  24 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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8

Long‐term clinical observation of patients with heterozygou..:

Kawashima, Aritomo ; Kodama, Kaori ; Okubo, Yukimune...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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9

A case of bipolar I disorder with a loss‐of‐function varian..:

Hara, Tomonori ; Kazuno, An‐a ; Toyota, Tomoko...
Psychiatry and Clinical Neurosciences.  78 (2024)  6 - p. 374-375 , 2024
Link: https://doi.org/10.1111/..
 
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10

Progressive myoclonic epilepsy as an expanding phenotype of..:

Sonoda, Yuri ; Fujita, Atsushi ; Torio, Michiko...
European Journal of Medical Genetics.  67 (2024)  - p. 104895 , 2024
Link: https://doi.org/10.1016/..
 
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11

Long-term course of a case with a novel homozygous kyphosco..:

Misumi, Yohei ; Yamashita, Taro ; Kuratomi, Aki...
Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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12

Auditory Neuropathy Spectrum Disorder Progressing with Moto..:

Okumura, Gaku ; Nakamura, Katsuya ; Seyama, Rie...
Internal Medicine.  63 (2024)  7 - p. 1005-1008 , 2024
Link: https://doi.org/10.2169/..
 
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13

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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14

A de novo dominant-negative variant is associated with OTUL..:

Takeda, Yukiko ; Ueki, Masahiro ; Matsuhiro, Junpei...
Journal of Experimental Medicine.  221 (2024)  6 - p. , 2024
Link: https://doi.org/10.1084/..
 
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15

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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