E-LIB Suche - Ergebnisse für: Wada, Yoshinao

1

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/..

2

Clinical and molecular findings in three Japanese patients ..:

Masunaga, Yohei ; Nishimura, Gen ; Takahashi, Koji...
Scientific Reports. 12 (2022) 1 - p. , 2022

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

3

Electrospray Ionization Mass Spectrometry of Apolipoprotein..:

Wada, Yoshinao ; Okamoto, Nobuhiko
Mass Spectrometry. 11 (2022) 1 - p. A0104-A0104 , 2022

Link: https://doi.org/10.5702/..

4

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Pat..:

Tachibana, Nobutaka ; Hosono, Katsuhiro ; Nomura, Shuhei...
Genes. 13 (2022) 2 - p. 359 , 2022

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

5

C-Mannosylated tryptophan-containing WSPW peptide binds to ..:

Ikezaki, Midori ; Nishitsuji, Kazuchika ; Matsumura, Ko...
Biochimie. 192 (2022) - p. 136-146 , 2022

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

6

Electrospray Ionization Mass Spectrometry of Transferrin: U..:

Wada, Yoshinao ; Okamoto, Nobuhiko
Mass Spectrometry. 11 (2022) 1 - p. A0103-A0103 , 2022

Link: https://doi.org/10.5702/..

7

Mass Spectrometry of Transferrin and Apolipoprotein CIII fr..:

Wada, Yoshinao ; Kadoya, Machiko ; Okamoto, Nobuhiko
Mass Spectrometry. 11 (2022) 1 - p. A0113-A0113 , 2022

Link: https://doi.org/10.5702/..

8

8th Asia–Oceania Mass Spectrometry Conference (AOMSC):

Chu, Ivan K. ; O'Hair, Richard A. J. ; Siu, K. W. Michael...
Journal of Mass Spectrometry. 56 (2021) 4 - p. , 2021

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

9

Congenital disorders of glycosylation type IIb with MOGS mu..:

Anzai, Rie ; Tsuji, Megumi ; Yamashita, Sumimasa...
Brain and Development. 43 (2021) 3 - p. 402-410 , 2021

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

10

Novel ALG12 variants and hydronephrosis in siblings with im..:

Hiraide, Takuya ; Wada, Yoshinao ; Matsubayashi, Tomoko...
Brain and Development. 43 (2021) 9 - p. 945-951 , 2021

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

11

Primary ovarian insufficiency in a female with phosphomanno..:

Masunaga, Yohei ; Mochizuki, Mie ; Kadoya, Machiko...
Endocrine Journal. 68 (2021) 5 - p. 605-611 , 2021

Link: https://doi.org/10.1507/..

12

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/..

13

Translational balancing questioned: Unaltered glycosylation..:

Kemme, Lisa ; Grüneberg, Marianne ; Reunert, Janine...
JIMD Reports. 60 (2021) 1 - p. 42-55 , 2021

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

14

SLC37A4-CDG: Mislocalization of the glucose-6-phosphate tra..:

Marquardt, Thorsten ; Bzduch, Vladimir ; Hogrebe, Max...
Molecular Genetics and Metabolism Reports. 25 (2020) - p. 100636 , 2020

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

15

Apolipoprotein C‐III O‐glycoform profiling of 500 serum sam..:

Wada, Yoshinao ; Okamoto, Nobuhiko
Journal of Mass Spectrometry. 56 (2020) 4 - p. , 2020

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