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Imaizumi, Taichi
34  Ergebnisse:
Personensuche X
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1

Uniparental maternal tetrasomy X co-occurrence with paterna..:

Shimojima Yamamoto, Keiko ; Yamamoto, Sakurako ; Imaizumi, Taichi..
Human Genome Variation.  11 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

Breakpoint analysis for cytogenetically balanced translocat..:

Tamura, Takeaki ; Shimojima Yamamoto, Keiko ; Imaizumi, Taichi...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1632-1638 , 2023
Link: https://doi.org/10.1002/..
 
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3

Usefulness of Cross-Mixing Test for Immune Thrombocytopenia..:

Imaizumi, Taichi ; Yamashita, Atsuki ; Ashikaga, Tomoko..
Journal of St. Marianna University.  13 (2022)  1 - p. 39-43 , 2022
Link: https://doi.org/10.17264..
 
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4

MCT8 deficiency in a patient with a novel frameshift varian..:

Wakabayashi, Kei ; Osaka, Hitoshi ; Kojima, Karin...
Human Genome Variation.  8 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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5

Novel LAMA2 variants identified in a patient with white mat..:

Yamamoto-Shimojima, Keiko ; Ono, Hiroaki ; Imaizumi, Taichi.
Human Genome Variation.  7 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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6

Complex chromosomal rearrangements of human chromosome 21 i..:

Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko ; Yanagishita, Tomoe...
Human Genetics.  139 (2020)  12 - p. 1555-1563 , 2020
Link: https://doi.org/10.1007/..
 
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7

Coffin‐Siris syndrome with bilateral macular dysplasia caus..:

Fujita, Takako ; Ihara, Yukiko ; Hayashi, Hitomi...
Congenital Anomalies.  60 (2020)  6 - p. 189-193 , 2020
Link: https://doi.org/10.1111/..
 
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8

Analyses of breakpoint junctions of complex genomic rearran..:

Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko ; Yanagishita, Tomoe..
Journal of Human Genetics.  65 (2020)  9 - p. 735-741 , 2020
Link: https://doi.org/10.1038/..
 
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9

Genomic backgrounds of Japanese patients with undiagnosed n..:

Yamamoto, Toshiyuki ; Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko...
Brain and Development.  41 (2019)  9 - p. 776-782 , 2019
Link: https://doi.org/10.1016/..
 
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10

Primrose syndrome associated with unclassified immunodefici..:

Yamamoto‐Shimojima, Keiko ; Imaizumi, Taichi ; Akagawa, Hiroyuki..
American Journal of Medical Genetics Part A.  182 (2019)  3 - p. 521-526 , 2019
Link: https://doi.org/10.1002/..
 
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11

Advantages of ddPCR in detection of PLP1 duplications:

Imaizumi, Taichi ; Yamamoto-Shimojima, Keiko ; Yamamoto, Toshiyuki
Intractable & Rare Diseases Research.  8 (2019)  3 - p. 198-202 , 2019
Link: https://doi.org/10.5582/..
 
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12

Elucidation of the pathogenic mechanism and potential treat..:

Yamamoto-Shimojima, Keiko ; Imaizumi, Taichi ; Aoki, Yusuke...
Journal of Human Genetics.  64 (2019)  7 - p. 665-671 , 2019
Link: https://doi.org/10.1038/..
 
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13

De novo 1p35.2 microdeletion including PUM1 identified in a..:

Imaizumi, Taichi ; Mogami, Yukiko ; Okamoto, Nobuhiko..
Congenital Anomalies.  59 (2019)  6 - p. 193-194 , 2019
Link: https://doi.org/10.1111/..
 
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14

Establishment of a simple and rapid method to detect MECP2 ..:

Imaizumi, Taichi ; Yamamoto‐Shimojima, Keiko ; Yamamoto, Hitoshi.
Congenital Anomalies.  60 (2019)  1 - p. 10-14 , 2019
Link: https://doi.org/10.1111/..
 
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15

Identification of a rare homozygous SZT2 variant due to uni..:

Imaizumi, Taichi ; Kumakura, Akira ; Yamamoto-Shimojima, Keiko.
Intractable & Rare Diseases Research.  7 (2018)  4 - p. 245-250 , 2018
Link: https://doi.org/10.5582/..
 
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