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Nishimura, Gen
389
results:
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1
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/..
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2
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/..
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3
$$\beta $$-MRI: new imaging device utilizing $$\beta $$-NMR:
Mizoi, Yutaka
;
Mihara, Mototsugu
;
Kimura, Yoko
...
Hyperfine Interactions. 245 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1007/..
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4
Childhood interstitial lung diseases: current understanding..:
Tsujioka, Yuko
;
Nishimura, Gen
;
Nishi, Eugene
...
Japanese Journal of Radiology. , 2024
Link:
https://doi.org/10.1007/..
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5
Effects of educational methods using extended reality on pr..:
Ota, Yuma
;
Aikawa, Gen
;
Nishimura, Ayako
...
Nurse Education Today. 141 (2024) - p. 106313 , 2024
Link:
https://doi.org/10.1016/..
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6
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/..
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7
Novel biallelic PISD missense variants cause spondyloepimet..:
Aagaard Nolting, Line
;
Holling, Tess
;
Nishimura, Gen
...
Clinical Genetics. , 2024
Link:
https://doi.org/10.1111/..
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8
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/..
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9
Development of Bi-2223 Model Magnet for Magnetic Refrigerat..:
Nishijima, Gen
;
Amaya, Munenori
;
Nishimura, Takashi
..
IEEE Transactions on Applied Superconductivity. 33 (2023) 5 - p. 1-5 , 2023
Link:
https://doi.org/10.1109/..
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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/..
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11
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/..
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12
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/..
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13
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/..
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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/..
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15
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/..
1-15