E-LIB Suche - Ergebnisse für: Kojima, Karin

1

Successful living‐donor liver transplantation for neonatal ..:

Nagai, Kohei ; Mitani, Tadahiro ; Kato, Masaya...
Pediatric Blood & Cancer. 71 (2024) 10 - p. , 2024

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

2

The ATRX splicing variant c.21-1G>A is asymptomatic:

Kojima, Karin ; Wada, Takahito ; Shimbo, Hiroko...
Human Genome Variation. 9 (2022) 1 - p. , 2022

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

3

MCT8 deficiency in a patient with a novel frameshift varian..:

Wakabayashi, Kei ; Osaka, Hitoshi ; Kojima, Karin...
Human Genome Variation. 8 (2021) 1 - p. , 2021

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

4

Two cases of DYNC1H1 mutations with intractable epilepsy:

Matsumoto, Ayumi ; Kojima, Karin ; Miya, Fuyuki...
Brain and Development. 43 (2021) 8 - p. 857-862 , 2021

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

5

Dopaminergic restoration of prefrontal cortico-putaminal ne..:

Onuki, Yoshiyuki ; Ono, Sayaka ; Nakajima, Takeshi...
Brain Communications. 3 (2021) 3 - p. , 2021

Link: https://doi.org/10.1093/..

6

Valine metabolites analysis in ECHS1 deficiency:

Kuwajima, Mari ; Kojima, Karin ; Osaka, Hitoshi...
Molecular Genetics and Metabolism Reports. 29 (2021) - p. 100809 , 2021

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

7

Novel variants in aromatic L-amino acid decarboxylase defic..:

Hasegawa, Yuiko ; Nishi, Eriko ; Mishima, Yuko...
Brain and Development. 43 (2021) 10 - p. 1023-1028 , 2021

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

8

MiR-302 Regulates Glycolysis to Control Cell-Cycle during N..:

Keuls, Rachel A. ; Kojima, Karin ; Lozzi, Brittney...
International Journal of Molecular Sciences. 21 (2020) 20 - p. 7534 , 2020

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

9

Gene therapy improves motor and mental function of aromatic..:

Kojima, Karin ; Nakajima, Takeshi ; Taga, Naoyuki...
Brain. 142 (2019) 2 - p. 322-333 , 2019

Link: https://doi.org/10.1093/..

10

A patient with early myoclonic encephalopathy (EME) with a ..:

Kojima, Karin ; Shirai, Kentaro ; Kobayashi, Mizuki...
Brain and Development. 40 (2018) 1 - p. 69-73 , 2018

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

11

Study with Family Members of Patients in the Intensive Care..:

Pio, Danielle Abdel Massih ; Cantelli, Debora Aiesha Leite ; Araújo, Ivan de Melo...
Creative Education. 8 (2017) 11 - p. 1742-1760 , 2017

Link: https://doi.org/10.4236/..

12

A female case of aromatic l-amino acid decarboxylase defici..:

Kojima, Karin ; Anzai, Rie ; Ohba, Chihiro...
Brain and Development. 38 (2016) 10 - p. 959-963 , 2016

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

13

Circadian-relevant genes are highly polymorphic in autism s..:

Yang, Zhiliang ; Matsumoto, Ayumi ; Nakayama, Kazuhiro...
Brain and Development. 38 (2016) 1 - p. 91-99 , 2016

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

14

The association of GPR85 with PSD-95-neuroligin complex and..:

Fujita-Jimbo, Eriko ; Tanabe, Yuko ; Yu, Zhiling...
Molecular Autism. 6 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

15

An Xp22.12 microduplication including RPS6KA3 identified in..:

Matsumoto, Ayumi ; Kuwajima, Mari ; Miyake, Kunio...
Journal of Human Genetics. 58 (2013) 11 - p. 755-757 , 2013

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