E-LIB Suche - Ergebnisse für: Akaboshi, Shinjiro

1

Clinical and genetic characteristics of patients with Doose..:

Hinokuma, Nodoka ; Nakashima, Mitsuko ; Asai, Hideyuki...
Epilepsia Open. 5 (2020) 3 - p. 442-450 , 2020

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

2

Prevalence and clinical characteristics of children with me..:

Yamada, Hiroyuki ; Ohno, Koyo ; Shiota, Madoka...
Brain and Development. 42 (2020) 10 - p. 747-755 , 2020

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

3

Multicenter, Open-Label, Randomized Controlled Trial of War..:

OHMORI, HIROMITSU ; NAKAMURA, MASHIO ; KADA, AKIKO...
The Kurume Medical Journal. 65 (2018) 1 - p. 11-16 , 2018

Link: https://doi.org/10.2739/..

4

Manifestations and characteristics of congenital adrenal hy..:

Abe, Yuichi ; Sakai, Tetsuro ; Okumura, Akihisa...
Brain and Development. 38 (2016) 7 - p. 638-647 , 2016

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

5

Novel compound heterozygous mutations of POLR3A revealed by..:

Shimojima, Keiko ; Shimada, Shino ; Tamasaki, Akiko...
Brain and Development. 36 (2014) 4 - p. 315-321 , 2014

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

6

Girl with monosomy 1p36 and Angelman syndrome due to unbala..:

Torisu, Hiroyuki ; Yamamoto, Toshiyuki ; Fujiwaki, Takehisa...
American Journal of Medical Genetics Part A. 131A (2004) 1 - p. 94-98 , 2004

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

7

Mutational spectrum of the succinate semialdehyde dehydroge..:

Akaboshi, Shinjiro ; Hogema, Boris M. ; Novelletto, Andrea...
Human Mutation. 22 (2003) 6 - p. 442-450 , 2003

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

8

Structure of human succinic semialdehyde dehydrogenase gene..:

Blasi, Paola ; Boyl, Pietro Pilo ; Ledda, Mario...
Molecular Genetics and Metabolism. 76 (2002) 4 - p. 348-362 , 2002

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

9

Forced normalization induced by ethosuximide therapy in a p..:

Yamamoto, Toshiyuki ; Pipo, Judy R. ; Akaboshi, Shinjiro.
Brain and Development. 23 (2001) 1 - p. 62-64 , 2001

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

10

Case of a mentally retarded child with non‐24 hour sleep–wa..:

Akaboshi, Shinjiro ; Inoue, Yu‐Ichi ; Kubota, Norika.
Psychiatry and Clinical Neurosciences. 54 (2000) 3 - p. 379-380 , 2000

Link: https://doi.org/10.1046/..

11

Developmental and pathological expression of peroxisomal en..:

Itoh, Masayuki ; Suzuki, Yasuyuki ; Akaboshi, Shinjiro...
Brain Research. 858 (2000) 1 - p. 40-47 , 2000

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

12

Sonic hedgehog signal peptide mutation in a patient with ho..:

Kato, Mitsuhiro ; Nanba, Eiji ; Akaboshi, Shinjiro...
Annals of Neurology. 47 (2000) 4 - p. 514-516 , 2000

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

13

A case of atypical absence seizures induced by leuprolide a..:

Akaboshi, Shinjiro ; Takeshita, Kenzo
Pediatric Neurology. 23 (2000) 3 - p. 266-268 , 2000

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

14

NPC1 gene mutations in Japanese patients with Niemann-Pick ..:

Yamamoto, Toshiyuki ; Nanba, Eiji ; Ninomiya, Haruaki...
Human Genetics. 105 (1999) 1-2 - p. 10-16 , 1999

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

15

Accumulation of cholesterol and GM2 ganglioside in cells cu..:

Sato, Masahiro ; Akaboshi, Shinjiro ; Katsumoto, Tetsuo...
Brain and Development. 20 (1998) 1 - p. 50-52 , 1998

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