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Matsumoto, Naomichi
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1

Functional evaluation of novel variants of B4GALNT1 in a pa..:

Inamori, Kei-ichiro ; Nakamura, Katsuya ; Shishido, Fumi...
Frontiers in Neuroscience.  18 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

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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3

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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4

Advantages of whole-exome sequencing over immunomapping in ..:

Kelmann, Samantha Vernaschi ; Stephan, Bruno de Oliveira ; Barbosa, Silvia Maria de Macedo...
Anais Brasileiros de Dermatologia.  99 (2024)  3 - p. 350-356 , 2024
Link: https://doi.org/10.1016/..
 
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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 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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7

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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8

Long-term clinical course of adult-onset refractory epileps..:

Tsuburaya-Suzuki, Rie ; Ohori, Sachiko ; Hamanaka, Kohei...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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9

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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10

Intermediate phenotype between CMT2Z and DIGFAN associated ..:

Hanada, Kenta ; Osaki, Yusuke ; Miyamoto, Ryosuke...
Human Genome Variation.  11 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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11

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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12

A family with neuronal intranuclear inclusion disease with ..:

Watanabe, Kazuki ; Bunai, Tomoyasu ; Sakamoto, Masamune...
Journal of Neurology.  , 2024
Link: https://doi.org/10.1007/..
 
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13

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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14

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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15

A pathogenic missense variant, c.2149G>A (p.Gly717Arg), in ..:

Morooka, Naoki ; Kido, Jun ; Ueno, Hiroe...
Brain and Development Case Reports.  2 (2024)  3 - p. 100023 , 2024
Link: https://doi.org/10.1016/..
 
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