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Mitsuko Nakashima
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1

Splicing variant of WDR37 in a case of Neurooculocardiogeni..:

Samejima, Mai ; Nakashima, Mitsuko ; Shibasaki, Jun..
Brain and Development.  46 (2024)  3 - p. 154-159 , 2024
Link: https://doi.org/10.1016/..
 
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2

A deep intronic TCTN2 variant activating a cryptic exon pre..:

Hiraide, Takuya ; Shimizu, Kenji ; Okumura, Yoshinori...
Journal of Human Genetics.  68 (2023)  7 - p. 499-505 , 2023
Link: https://doi.org/10.1038/..
 
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3

A case of infantile spasms with three possibly pathogenic d..:

Watanabe, Kazuki ; Kubota, Kazuo ; Nakashima, Mitsuko.
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

The Development and Evaluation of the Interprofessional Edu..:

Son, Daisuke ; Kawamura, Kazumi ; Utsumi, Miho...
Cureus.  , 2023
Link: https://doi.org/10.7759/..
 
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5

Multiple hemangiomas (hepatic small vessel neoplasia) in th..:

Kobayashi, Hiroshi ; Notohara, Kenji ; Nakashima, Mitsuko...
Virchows Archiv.  482 (2023)  6 - p. 1085-1089 , 2023
Link: https://doi.org/10.1007/..
 
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6

Two novel cases of biallelic SMPD4 variants with brain stru..:

Aoki, Shintaro ; Watanabe, Kazuki ; Kato, Mitsuhiro...
neurogenetics.  25 (2023)  1 - p. 3-11 , 2023
Link: https://doi.org/10.1007/..
 
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7

The HCN1 p.Ser399Pro variant causes epileptic encephalopath..:

Kobayashi, Yu ; Tohyama, Jun ; Akasaka, Noriyuki...
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Both MLH1 deficiency and BRAFV600E mutation are a unique ch..:

Kaneko, Masanao ; Nakashima, Mitsuko ; Sugiura, Kiichi...
Medicine.  102 (2023)  38 - p. e35022 , 2023
Link: https://doi.org/10.1097/..
 
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9

Novel compound heterozygous ATP1A2 variants in a patient wi..:

Furukawa, Shogo ; Kato, Mitsuhiro ; Nomura, Toshihiro...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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10

Identification of pathogenic deep intronic variant and exon..:

Miyamoto, Sachiko ; Nakamura, Kazuyuki ; Kato, Mitsuhiro..
Annals of Human Genetics.  87 (2023)  4 - p. 196-202 , 2023
Link: https://doi.org/10.1111/..
 
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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

A Novel Constitutively Activec . 98 G > C, p.(R33P) Variant..:

Tsuneura, Yumi ; Kawai, Taeko ; Yamada, Keitaro...
Human Mutation.  2023 (2023)  - p. 1-12 , 2023
Link: https://doi.org/10.1155/..
 
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13

Case report: Progressive pulmonary artery hypertension in a..:

Yoh, Yuri ; Shiohama, Tadashi ; Uchida, Tomoko...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

De novo CLCN3 variants affecting Gly327 cause severe neurod..:

Nakashima, Mitsuko ; Argilli, Emanuela ; Nakano, Sayaka...
Journal of Human Genetics.  68 (2022)  4 - p. 291-298 , 2022
Link: https://doi.org/10.1038/..
 
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15

Large-scale discovery of novel neurodevelopmental disorder-..:

Hamanaka, Kohei ; Miyake, Noriko ; Mizuguchi, Takeshi...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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