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Nishimura, Gen
588
results:
Online X
Format
Online (588)
Mediatypes
Articles (Online) (396)
Bookchapter (Online) (3)
OpenAccess-fulltext (189)
Sorted by: Relevance
Sorted by: Year
?
1
Biallelic loss-of-function variants in the centriolar prote..:
Suzuki, Hisato
;
Muramatsu, Yukako
;
Miya, Fuyuki
...
European Journal of Medical Genetics. 70 (2024) - p. 104955 , 2024
Link:
https://doi.org/10.1016/..
?
2
Dyssegmental dysplasia Rolland–Desbuquois type is caused by..:
Farshadyeganeh, Paniz
;
Yamada, Takahiro
;
Ohashi, Hirofumi
...
Journal of Human Genetics. 69 (2024) 6 - p. 235-244 , 2024
Link:
https://doi.org/10.1038/..
?
3
Pachydysostosis of the fibula in a case of familial adenoma..:
Oliveira, Daniela
;
Maia, Sofia
;
Balacó, Inês
...
European Journal of Medical Genetics. 68 (2024) - p. 104913 , 2024
Link:
https://doi.org/10.1016/..
?
4
Childhood interstitial lung diseases: current understanding..:
Tsujioka, Yuko
;
Nishimura, Gen
;
Nishi, Eugene
...
Japanese Journal of Radiology. , 2024
Link:
https://doi.org/10.1007/..
?
5
Novel biallelic PISD missense variants cause spondyloepimet..:
Aagaard Nolting, Line
;
Holling, Tess
;
Nishimura, Gen
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
?
6
RMRP‐related short stature: A report of six additional Japa..:
Uchida, Noboru
;
Ishii, Tomohiro
;
Nishimura, Gen
...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1002/..
?
7
Clinical, genetic and structural delineation of RPL13-relat..:
Jacob, Prince
;
Lindelöf, Hillevi
;
Rustad, Cecilie F.
...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
?
8
Imaging findings of juvenile idiopathic arthritis and autoi..:
Tsujioka, Yuko
;
Nishimura, Gen
;
Sugimoto, Hideharu
...
Japanese Journal of Radiology. 41 (2023) 11 - p. 1186-1207 , 2023
Link:
https://doi.org/10.1007/..
?
9
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey..:
Yap, Jia Ying Celeste
;
Lim, Jiin Ying
;
Bhatia, Anju
...
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 358-362 , 2023
Link:
https://doi.org/10.1002/..
?
10
Compound heterozygous variants in RAB34 in a rare skeletal ..:
Batkovskyte, Dominyka
;
Komatsu, Maya
;
Hammarsjö, Anna
...
Clinical Genetics. 105 (2023) 1 - p. 87-91 , 2023
Link:
https://doi.org/10.1111/..
?
11
Nosology of genetic skeletal disorders: 2023 revision:
Unger, Sheila
;
Ferreira, Carlos R.
;
Mortier, Geert R.
...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1164-1209 , 2023
Link:
https://doi.org/10.1002/..
?
12
Case report: Extending the spectrum of clinical and molecul..:
Garza Flores, Alexandra
;
Nordgren, Ida
;
Pettersson, Maria
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
13
A hypomorphic variant in the translocase of the outer mitoc..:
Young, Cameron
;
Batkovskyte, Dominyka
;
Kitamura, Miyuki
...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100148 , 2023
Link:
https://doi.org/10.1016/..
?
14
Prenatal diagnosis of bone dysplasias:
Nishimura, Gen
;
Handa, Atsuhiko
;
Miyazaki, Osamu
...
The British Journal of Radiology. 96 (2023) 1147 - p. , 2023
Link:
https://doi.org/10.1259/..
?
15
Development of individuals with thanatophoric dysplasia sur..:
Ushioda, Mariko
;
Sawai, Hideaki
;
Numabe, Hironao
..
Pediatrics International. 64 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1111/..
1-15