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Kato, Kohji
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1

MYCN in human development and diseases:

Nishio, Yosuke ; Kato, Kohji ; Oishi, Hisashi..
Frontiers in Oncology.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Gain-of-function MYCN causes a megalencephaly-polydactyly s..:

Nishio, Yosuke ; Kato, Kohji ; Tran Mau-Them, Frederic...
Human Genetics and Genomics Advances.  4 (2023)  4 - p. 100238 , 2023
Link: https://doi.org/10.1016/..
 
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3

Structure of the endosomal Commander complex mutated in Rit..:

Healy, Michael D. ; McNally, Kerrie E. ; Butkovic, Rebeka...
Acta Crystallographica Section A Foundations and Advances.  79 (2023)  a2 - p. C563-C563 , 2023
Link: https://doi.org/10.1107/..
 
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4

Structure of the endosomal Commander complex linked to Rits..:

Healy, Michael D. ; McNally, Kerrie E. ; Butkovič, Rebeka...
Cell.  186 (2023)  10 - p. 2219-2237.e29 , 2023
Link: https://doi.org/10.1016/..
 
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5

Two children with hypophosphatasia with a heterozygous c.15..:

Kitoh, Hiroshi ; Izawa, Masako ; Kaneko, Hiroshi...
Bone Reports.  17 (2022)  - p. 101626 , 2022
Link: https://doi.org/10.1016/..
 
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6

Whole-exome analysis of 177 pediatric patients with undiagn..:

Narita, Kotaro ; Muramatsu, Hideki ; Narumi, Satoshi...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

Clinical diversity and molecular mechanism of VPS35L-associ..:

Otsuji, Shiomi ; Nishio, Yosuke ; Tsujita, Maki...
Journal of Medical Genetics.  60 (2022)  4 - p. 359-367 , 2022
Link: https://doi.org/10.1136/..
 
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8

Expanding the phenotypic spectrum of ARCN1-related syndrome:

Ritter, Alyssa L. ; Gold, Jessica ; Hayashi, Hiroshi...
Genetics in Medicine.  24 (2022)  6 - p. 1227-1237 , 2022
Link: https://doi.org/10.1016/..
 
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9

Phosphorylated proteome analysis of a novel germline ABL1 m..:

Yamamoto, Hidenori ; Hayano, Satoshi ; Okuno, Yusuke...
International Journal of Cardiology.  326 (2021)  - p. 81-87 , 2021
Link: https://doi.org/10.1016/..
 
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10

Digenic mutations inALDH2andADH5impair formaldehyde clearan..:

Oka, Yasuyoshi ; Hamada, Motoharu ; Nakazawa, Yuka...
Science Advances.  6 (2020)  51 - p. , 2020
Link: https://doi.org/10.1126/..
 
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11

Severe achondroplasia due to two de novo variants in the tr..:

Nagata, Tadashi ; Matsushita, Masaki ; Mishima, Kenichi...
Molecular Genetics & Genomic Medicine.  8 (2020)  3 - p. , 2020
Link: https://doi.org/10.1002/..
 
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12

Novel compound heterozygous MCOLN1 mutations identified in ..:

Yamaguchi, Naoya ; Ban, Kyoko ; Suzuki, Atsushi...
Brain and Development.  42 (2020)  3 - p. 298-301 , 2020
Link: https://doi.org/10.1016/..
 
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13

Expanding the phenotype of biallelic loss‐of‐function varia..:

Kato, Kohji ; Mizuno, Seiji ; Morton, Jenny...
American Journal of Medical Genetics Part A.  185 (2020)  1 - p. 282-285 , 2020
Link: https://doi.org/10.1002/..
 
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14

Two mouse models carrying truncating mutations in Magel2 sh..:

Ieda, Daisuke ; Negishi, Yutaka ; Miyamoto, Tomomi...
PLOS ONE.  15 (2020)  8 - p. e0237814 , 2020
Link: https://doi.org/10.1371/..
 
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15

Novel biallelic FA2H mutations in a Japanese boy with fatty..:

Kawaguchi, Masahiro ; Sassa, Takayuki ; Kidokoro, Hiroyuki...
Brain and Development.  42 (2020)  2 - p. 217-221 , 2020
Link: https://doi.org/10.1016/..
 
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