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Nishimura, Gen
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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/..
 
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2

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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3

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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4

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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5

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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6

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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7

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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8

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/..
 
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9

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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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

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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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/..
 
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13

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/..
 
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14

BCG osteomyelitis: tips for diagnosis:

Tsujioka, Yuko ; Nozaki, Taiki ; Nishimura, Gen...
Skeletal Radiology.  51 (2022)  8 - p. 1571-1584 , 2022
Link: https://doi.org/10.1007/..
 
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15

Prenatal ultrasonographic features in Blomstrand osteochond..:

Sarac Sivrikoz, Tugba ; Kalayci, Tugba ; Senturk, Leyli...
Prenatal Diagnosis.  42 (2022)  12 - p. 1503-1510 , 2022
Link: https://doi.org/10.1002/..
 
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