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Niihori, Tetsuya
118  results:
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1

Genetic backgrounds and genotype-phenotype relationships in..:

Shoji, Yasuko ; Hata, Ayaha ; Maeyama, Takatoshi...
Clinical Pediatric Endocrinology.  33 (2024)  2 - p. 50-58 , 2024
Link: https://doi.org/10.1297/..
 
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2

Comprehensive Analysis of a Japanese Pedigree with Bialleli..:

Izumi, Rumiko ; Warita, Hitoshi ; Niihori, Tetsuya...
The Cerebellum.  23 (2024)  4 - p. 1498-1508 , 2024
Link: https://doi.org/10.1007/..
 
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3

FGFR1 related Encephalocraniocutaneous lipomatosis in a neo..:

Zuiki, Masashi ; Chiyonobu, Tomohiro ; Morimoto, Hidechika...
Brain and Development Case Reports.  2 (2024)  1 - p. 100005 , 2024
Link: https://doi.org/10.1016/..
 
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4

Neonatal developmental and epileptic encephalopathy with mo..:

Okubo, Yukimune ; Shibuya, Moriei ; Nakamura, Haruhiko...
Brain and Development.  45 (2023)  9 - p. 505-511 , 2023
Link: https://doi.org/10.1016/..
 
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5

CGG repeat expansion in LRP12 in amyotrophic lateral sclero..:

Kume, Kodai ; Kurashige, Takashi ; Muguruma, Keiko...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1086-1097 , 2023
Link: https://doi.org/10.1016/..
 
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6

Mecom mutation related to radioulnar synostosis with amegak..:

Nagai, Koki ; Niihori, Tetsuya ; Muto, Akihiko...
Blood Advances.  7 (2023)  18 - p. 5409-5420 , 2023
Link: https://doi.org/10.1182/..
 
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7

LZTR1 deficiency exerts high metastatic potential by enhanc..:

Abe, Taiki ; Kanno, Shin-ichiro ; Niihori, Tetsuya...
Cell Death & Disease.  14 (2023)  8 - p. , 2023
Link: https://doi.org/10.1038/..
 
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8

Nuclear pore pathology underlying multisystem proteinopathy..:

Izumi, Rumiko ; Ikeda, Kensuke ; Niihori, Tetsuya...
Annals of Clinical and Translational Neurology.  11 (2023)  3 - p. 577-592 , 2023
Link: https://doi.org/10.1002/..
 
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9

Management of patients with presumed germline pathogenic va..:

Kawamura, Maako ; Shirota, Hidekazu ; Niihori, Tetsuya...
Journal of Human Genetics.  68 (2023)  6 - p. 399-408 , 2023
Link: https://doi.org/10.1038/..
 
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10

Phenotypic heterogeneity in individuals with MECOM variants..:

Niihori, Tetsuya ; Tanoshima, Reo ; Sasahara, Yoji...
Blood Advances.  6 (2022)  18 - p. 5257-5261 , 2022
Link: https://doi.org/10.1182/..
 
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11

Cover:

Ito, Shin ; Hashimoto, Aya ; Yamaguchi, Kazunori...
Molecular Genetics & Genomic Medicine.  10 (2022)  3 - p. , 2022
Link: https://doi.org/10.1002/..
 
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12

A novel variant in the transmembrane 4 domain of ANO3 ident..:

Aihara, Yu ; Shirota, Matsuyuki ; Kikuchi, Atsuo...
Journal of Human Genetics.  68 (2022)  1 - p. 51-54 , 2022
Link: https://doi.org/10.1038/..
 
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13

Comprehensive genomic profiling of a unique liposarcoma ari..:

Watanabe, Hirofumi ; Fujishima, Fumiyoshi ; Motoi, Toru...
Diagnostic Pathology.  17 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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14

NovelPOLEmutations identified in patients with IMAGE-I synd..:

Nakano, Tomohiro ; Sasahara, Yoji ; Kikuchi, Atsuo...
Journal of Medical Genetics.  59 (2022)  11 - p. 1116-1122 , 2022
Link: https://doi.org/10.1136/..
 
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15

Clinical decisions by the molecular tumor board on comprehe..:

Shirota, Hidekazu ; Komine, Keigo ; Takahashi, Masanobu...
Cancer Medicine.  12 (2022)  5 - p. 6170-6181 , 2022
Link: https://doi.org/10.1002/..
 
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