E-LIB Suche - Ergebnisse für: Kohmoto, Tomohiro

1

GWAS for systemic sclerosis identifies six novel susceptibi..:

Ishikawa, Yuki ; Tanaka, Nao ; Asano, Yoshihide...
Nature Communications. 15 (2024) 1 - p. , 2024

2

TP63 mutation mapping information in TP63 mutation-associat..:

Harazono, Yosuke ; Morita, Kei-ichi ; Tonouchi, Erina...
Advances in Oral and Maxillofacial Surgery. 5 (2022) - p. 100253 , 2022

Link: https://doi.org/10.1016/..

3

Association between germline pathogenic variants and breast..:

Kasugai, Yumiko ; Kohmoto, Tomohiro ; Taniyama, Yukari...
Cancer Science. 113 (2022) 4 - p. 1451-1462 , 2022

Link: https://doi.org/10.1111/..

4

Siblings with MAN1B1-CDG Showing Novel Biochemical Profiles:

Okamoto, Nobuhiko ; Ohto, Tatsuyuki ; Enokizono, Takashi...
Cells. 10 (2021) 11 - p. 3117 , 2021

Link: https://doi.org/10.3390/..

5

Functionally confirmed compound heterozygous ADAM17 missens..:

Imoto, Issei ; Saito, Masako ; Suga, Kenichi...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

6

ADAM17 selectively activates theIL‐6 trans‐signaling/ERK MA..:

Saad, Mohamed I ; Alhayyani, Sultan ; McLeod, Louise...
EMBO Molecular Medicine. 11 (2019) 4 - p. , 2019

Link: https://doi.org/10.15252..

7

Claudin-6 is a single prognostic marker and functions as a ..:

Kohmoto, Tomohiro ; Masuda, Kiyoshi ; Shoda, Katsutoshi...
Gastric Cancer. 23 (2019) 3 - p. 403-417 , 2019

Link: https://doi.org/10.1007/..

8

Prognostic significance of GAD1 overexpression in patients ..:

Tsuboi, Mitsuhiro ; Kondo, Kazuya ; Masuda, Kiyoshi...
Cancer Medicine. 8 (2019) 9 - p. 4189-4199 , 2019

Link: https://doi.org/10.1002/..

9

Novel compound heterozygous CDH23 variants in a patient wit..:

Okano, Satomi ; Makita, Yoshio ; Katada, Akihiro...
Human Genome Variation. 6 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

10

A 16q22.2-q23.1 deletion identified in a male infant with W..:

Mori, Tatsuo ; Goji, Aya ; Toda, Yoshihiro...
Brain and Development. 41 (2019) 10 - p. 888-893 , 2019

Link: https://doi.org/10.1016/..

11

Primary microcephaly caused by novel compound heterozygous ..:

Okamoto, Nobuhiko ; Kohmoto, Tomohiro ; Naruto, Takuya..
Human Genome Variation. 5 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..

12

A rare male patient with classic Rett syndrome caused by Me..:

Tokaji, Narumi ; Ito, Hiromichi ; Kohmoto, Tomohiro...
American Journal of Medical Genetics Part A. 176 (2018) 3 - p. 699-702 , 2018

Link: https://doi.org/10.1002/..

13

Genome-first approach diagnosed Cabezas syndrome via novel ..:

Okamoto, Nobuhiko ; Watanabe, Miki ; Naruto, Takuya...
Human Genome Variation. 4 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..

14

Construction of a combinatorial pipeline using two somatic ..:

Kohmoto, Tomohiro ; Masuda, Kiyoshi ; Naruto, Takuya...
The Journal of Medical Investigation. 64 (2017) 3.4 - p. 233-240 , 2017

Link: https://doi.org/10.2152/..

15

Novel CLCN7 compound heterozygous mutations in intermediate..:

Okamoto, Nana ; Kohmoto, Tomohiro ; Naruto, Takuya...
Human Genome Variation. 4 (2017) 1 - p. , 2017

Link: https://doi.org/10.1038/..