E-LIB Suche - Ergebnisse für: Koshimizu, Eriko

1

Detection of hidden intronic DDC variant in aromatic L-amin..:

Koshimizu, Eriko ; Kato, Mitsuhiro ; Misawa, Kazuharu...
Journal of Human Genetics. , 2024

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

2

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a..:

Inoue, Yuta ; Tsuchida, Naomi ; Kim, Chong Ae...
Journal of Human Genetics. , 2024

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

3

FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion i..:

Matsushima, Masaaki ; Yaguchi, Hiroaki ; Koshimizu, Eriko...
Journal of Neurology. 271 (2024) 6 - p. 3643-3647 , 2024

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

4

A case of Bloom syndrome manifesting with therapy-related m..:

Ohashi, Takuma ; Kunimoto, Hiroyoshi ; Nukui, Jun...
International Journal of Hematology. 119 (2024) 5 - p. 603-607 , 2024

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

5

Correction: A novel homozygous CHMP1A variant arising from ..:

Sakamoto, Masamune ; Shiiki, Toshihide ; Matsui, Shuji...
Journal of Human Genetics. 68 (2023) 4 - p. 299-299 , 2023

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

6

Long-read sequencing revealing intragenic deletions in exom..:

Fukuda, Hiromi ; Mizuguchi, Takeshi ; Doi, Hiroshi...
Journal of Human Genetics. 68 (2023) 10 - p. 689-697 , 2023

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

7

A heterozygous germline deletion within USP8 causes severe ..:

Sakamoto, Masamune ; Kurosawa, Kenji ; Tanoue, Koji...
Journal of Human Genetics. 69 (2023) 2 - p. 85-90 , 2023

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

8

Three KINSSHIP syndrome patients with mosaic and germline A..:

Inoue, Yuta ; Tsuchida, Naomi ; Okamoto, Nobuhiko...
Clinical Genetics. 103 (2023) 5 - p. 590-595 , 2023

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

9

Genome-wide identification of tandem repeats associated wit..:

Hamanaka, Kohei ; Yamauchi, Daisuke ; Koshimizu, Eriko...
Genome Research. 33 (2023) 3 - p. 435-447 , 2023

Link: https://doi.org/10.1101/..

10

A case of early-infantile onset, rapidly progressive leukoe..:

Kodama, Kazuo ; Aoyama, Hiromi ; Murakami, Yoshimi...
Radiology Case Reports. 18 (2023) 3 - p. 1217-1220 , 2023

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

11

RNA Foci in Two bi‐Allelic RFC1 Expansion Carriers:

Wada, Taishi ; Doi, Hiroshi ; Okubo, Masaki...
Annals of Neurology. 95 (2023) 3 - p. 607-613 , 2023

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

12

Detection of Modified Histones from Oral Mucosa of a Patien..:

Sugeno, Naoto ; Hasegawa, Takafumi ; Haginoya, Kazuhiro...
Molecular Syndromology. 14 (2023) 6 - p. 461-468 , 2023

Link: https://doi.org/10.1159/..

13

Distal arthrogryposis in a girl arising from a novel TNNI2 ..:

Seyama, Rie ; Uchiyama, Yuri ; Kaneshi, Yosuke...
Journal of Human Genetics. 68 (2023) 5 - p. 363-367 , 2023

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

14

Association of biallelic RFC1 expansion with early‐onset Pa..:

Ylikotila, Pauli ; Sipilä, Jussi ; Alapirtti, Tiina...
European Journal of Neurology. 30 (2023) 5 - p. 1256-1261 , 2023

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

15

Novel missense variants cause intermediate phenotypes in th..:

Utsuno, Yasuhiro ; Hamada, Keisuke ; Hamanaka, Kohei...
Journal of Human Genetics. 69 (2023) 2 - p. 69-77 , 2023

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