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Iwama, Kazuhiro
126  results:
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1

From Chinese food to Japan's Hokkaido heritage: The transfo..:

Iwama, Kazuhiro
Routledge Open Research.  3 (2024)  - p. 2 , 2024
Link: https://doi.org/10.12688..
 
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2

Severe Early-Onset Vitamin K Deficiency Bleeding in a Neona..:

Ikenaga, Chiho ; Uchi, Ryosuke ; Ishida, Fumihiko...
American Journal of Perinatology Reports.  14 (2024)  1 - p. e1-e6 , 2024
Link: https://doi.org/10.1055/..
 
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3

From Chinese food to Japan's Hokkaido heritage: The transfo..:

Iwama, Kazuhiro
Routledge Open Research.  3 (2024)  - p. 2 , 2024
Link: https://doi.org/10.12688..
 
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4

Long‐term clinical observation of patients with heterozygou..:

Kawashima, Aritomo ; Kodama, Kaori ; Okubo, Yukimune...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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5

A deletion variant in LMX1B causing nail–patella syndrome i..:

Kishio, Nozomu ; Iwama, Kazuhiro ; Nakanishi, Sayuri...
Human Genome Variation.  11 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

A heterozygous germline deletion within USP8 causes severe ..:

Sakamoto, Masamune ; Kurosawa, Kenji ; Tanoue, Koji...
Journal of Human Genetics.  69 (2023)  2 - p. 85-90 , 2023
Link: https://doi.org/10.1038/..
 
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7

A case of early-infantile onset, rapidly progressive leukoe..:

Kodama, Kazuo ; Aoyama, Hiromi ; Murakami, Yoshimi...
Radiology Case Reports.  18 (2023)  3 - p. 1217-1220 , 2023
Link: https://doi.org/10.1016/..
 
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8

Genetic and clinical landscape of childhood cerebellar hypo..:

Sakamoto, Masamune ; Iwama, Kazuhiro ; Sasaki, Masayuki...
Genetics in Medicine.  24 (2022)  12 - p. 2453-2463 , 2022
Link: https://doi.org/10.1016/..
 
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9

Perampanel markedly improved clinical seizures in a patient..:

Yoshida, Syun ; Amamoto, Masano ; Takahashi, Tomoyuki...
Clinical Case Reports.  10 (2022)  5 - p. , 2022
Link: https://doi.org/10.1002/..
 
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10

Pathogenic variants detected by RNA sequencing in Cornelia ..:

Seyama, Rie ; Uchiyama, Yuri ; Ceroni, José Ricard Magliocco...
Genomics.  114 (2022)  5 - p. 110468 , 2022
Link: https://doi.org/10.1016/..
 
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11

Pathogenic MAST3 Variants in the STK Domain Are Associated ..:

Spinelli, Egidio ; Christensen, Kyle R. ; Bryant, Emily...
Annals of Neurology.  90 (2021)  2 - p. 274-284 , 2021
Link: https://doi.org/10.1002/..
 
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12

Pathogenic variants in the survival of motor neurons comple..:

Saida, Ken ; Tamaoki, Junya ; Sasaki, Masayuki...
Clinical Genetics.  100 (2021)  6 - p. 722-730 , 2021
Link: https://doi.org/10.1111/..
 
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13

Novel ACOX1 mutations in two siblings with peroxisomal acyl..:

Morita, Atsushi ; Enokizono, Takashi ; Ohto, Tatsuyuki...
Brain and Development.  43 (2021)  3 - p. 475-481 , 2021
Link: https://doi.org/10.1016/..
 
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14

De novo ARF3 variants cause neurodevelopmental disorder wit..:

Sakamoto, Masamune ; Sasaki, Kazunori ; Sugie, Atsushi...
Human Molecular Genetics.  31 (2021)  1 - p. 69-81 , 2021
Link: https://doi.org/10.1093/..
 
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15

Retraction Note to: Nonsense variants in STAG2 result in di..:

Aoi, Hiromi ; Lei, Ming ; Mizuguchi, Takeshi...
Journal of Human Genetics.  65 (2020)  9 - p. 811-811 , 2020
Link: https://doi.org/10.1038/..
 
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