E-LIB Suche - Ergebnisse für: Yanagi, Kumiko

1

Clinical details of individuals with Rauch–Steindl syndrome..:

Nishi, Eriko ; Yanagi, Kumiko ; Kaname, Tadashi.
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

2

Biallelic variants in LARS1 induce steatosis in developing ..:

Inoue, Masanori ; Sebastian, Wulan Apridita ; Sonoda, Shota...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

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

3

A novel DLG4 variant causes DLG4-related synaptopathy with ..:

Tokunaga, Sachi ; Shimomura, Hideki ; Taniguchi, Naoko...
Human Genome Variation. 11 (2024) 1 - p. , 2024

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

4

Functional analysis of RRAS2 pathogenic variants with a Noo..:

Iida, Takaya ; Igarashi, Arisa ; Fukunaga, Kae...
Frontiers in Genetics. 15 (2024) - p. , 2024

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

5

Biallelic loss‐of‐function variants of EZH1 cause a novel d..:

Okamoto, Nobuhiko ; Yoshida, Sayaka ; Ogitani, Ayako...
American Journal of Medical Genetics Part A. , 2024

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

6

ATP1A3 potentially causes hereditary spastic paraplegia: A ..:

Okano, Satomi ; Makita, Yoshio ; Ueda, Yuki...
Brain and Development Case Reports. 2 (2024) 2 - p. 100016 , 2024

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

7

Case Report: An Adult Case of Poretti-Boltshauser Syndrome ..:

Ikeda, Kensuke ; Tamagake, Ayane ; Kubota, Takafumi...
The Cerebellum. , 2024

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

8

Renal coloboma syndrome/dominant optic atrophy with severe ..:

Shimabukuro, Wataru ; Chinen, Yasutsugu ; Imanaga, Naoya...
Pediatric Nephrology. , 2024

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

9

A novel homozygous variant of the PIGK gene caused by pater..:

Sadamitsu, Kenichiro ; Yanagi, Kumiko ; Hasegawa, Yuiko...
Journal of Human Genetics. , 2024

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

10

Human germline gain-of-function in STAT6: from severe aller..:

Sharma, Mehul ; Suratannon, Narissara ; Leung, Daniel...
Trends in Immunology. 45 (2024) 2 - p. 138-153 , 2024

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

11

Clinical characteristics of muscle cramps in hereditary ang..:

Haga, Shunsuke ; Takeguchi, Ryo ; Tanaka, Ryosuke...
Brain and Development. 45 (2023) 7 - p. 390-394 , 2023

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

12

GRIA3 p.Met661Thr variant in a female with developmental ep..:

Okano, Satomi ; Makita, Yoshio ; Miyamoto, Akie...
Human Genome Variation. 10 (2023) 1 - p. , 2023

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

13

HIST1H1E syndrome with deficiency in multiple pituitaryhorm..:

Tanabe, Yuko ; Nomura, Naohiro ; Minami, Miki...
Clinical Pediatric Endocrinology. 32 (2023) 3 - p. 195-198 , 2023

Link: https://doi.org/10.1297/..

14

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/..

15

STAT6 gain-of-function variant exacerbates multiple allergi..:

Takeuchi, Ichiro ; Yanagi, Kumiko ; Takada, Shuji...
Journal of Allergy and Clinical Immunology. 151 (2023) 5 - p. 1402-1409.e6 , 2023

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