E-LIB Suche - Ergebnisse für: Tsuchida, Naomi

1

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/..

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

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/..

4

X-linked intellectual disability related to a novel variant..:

Kido, Jun ; Egami, Kimiyasu ; Misumi, Yohei...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

5

Biallelic structural variations withinFGF12detected by long..:

Ohori, Sachiko ; Miyauchi, Akihiko ; Osaka, Hitoshi...
Life Science Alliance. 6 (2023) 8 - p. e202302025 , 2023

Link: https://doi.org/10.26508..

6

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/..

7

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/..

8

Exome-wide benchmark of difficult-to-sequence regions using..:

Hijikata, Atsushi ; Suyama, Mikita ; Kikugawa, Shingo...
Nucleic Acids Research. 52 (2023) 1 - p. 114-124 , 2023

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

9

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/..

10

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/..

11

An integrated genetic analysis of epileptogenic brain malfo..:

Fujita, Atsushi ; Kato, Mitsuhiro ; Sugano, Hidenori...
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

12

Complete SAMD12 repeat expansion sequencing in a four-gener..:

Mizuguchi, Takeshi ; Toyota, Tomoko ; Koshimizu, Eriko...
Journal of Human Genetics. 68 (2023) 12 - p. 875-878 , 2023

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

13

Comment on: Efficient detection of somatic UBA1 variants an..:

Tsuchida, Naomi ; Uchiyama, Yuri ; Maeda, Ayaka...
Rheumatology. , 2023

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

14

Protective effect of hydroxychloroquine on infections in pa..:

Hidekawa, Chiharu ; Yoshimi, Ryusuke ; Saigusa, Yusuke...
Frontiers in Immunology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

15

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/..