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Yamamoto, Keiko Shimojima
253  results:
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1

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients w..:

Nakahara, Erina ; Yamamoto, Keiko Shimojima ; Ogura, Hiromi...
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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2

Clinical and genetic diagnosis of thirteen Japanese patient..:

Yamamoto, Keiko Shimojima ; Utshigisawa, Taiju ; Ogura, Hiromi...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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3

Corrigendum to "HECW2‐related disorder in four Japanese pat..:

Yanagishita, Tomoe ; Hirade, Takuya ; Yamamoto, Keiko Shimojima...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3926-3927 , 2021
Link: https://doi.org/10.1002/..
 
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4

Interstitial microdeletions of 3q26.2q26.31 in two patients..:

Tamura, Takeaki ; Yamamoto Shimojima, Keiko ; Shiihara, Takashi...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 400-407 , 2022
Link: https://doi.org/10.1002/..
 
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5

Interstitial deletions in the proximal regions of 6q: 12 or..:

Machida, Osamu ; Yamamoto Shimojima, Keiko ; Shiihara, Takashi...
Intractable & Rare Diseases Research.  11 (2022)  3 - p. 143-148 , 2022
Link: https://doi.org/10.5582/..
 
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6

Long‐read sequence analysis for clustered genomic copy numb..:

Tamura, Takeaki ; Yamamoto Shimojima, Keiko ; Okamoto, Nobuhiko...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 112-119 , 2022
Link: https://doi.org/10.1002/..
 
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7

Rare mosaic variant of GJA1 in a patient with a neurodevelo..:

Shimomura, Rina ; Yanagishita, Tomoe ; Ishiguro, Kumiko...
Human Genome Variation.  11 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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8

Haploinsufficiency of NKX2-1 is likely to contribute to dev..:

Machida, Osamu ; Sakamoto, Haruko ; Shimojima Yamamoto, Keiko...
Intractable & Rare Diseases Research.  13 (2024)  1 - p. 36-41 , 2024
Link: https://doi.org/10.5582/..
 
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9

Xq22 deletion involving TCEAL1 in a female patient with ear..:

Shimojima Yamamoto, Keiko ; Itagaki, Yusuke ; Tanaka, Kazuki..
Human Genome Variation.  11 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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10

A Novel SPTA1 Mutation in a Patient with Hereditary Spheroc..:

Nato, Yuma ; Kageyama, Yuki ; Suzuki, Kazutaka...
Internal Medicine.  62 (2023)  1 - p. 107-111 , 2023
Link: https://doi.org/10.2169/..
 
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11

Identification of small-sized intrachromosomal segments at ..:

Shimojima Yamamoto, Keiko ; Tamura, Takeaki ; Okamoto, Nobuhiko...
Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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12

Biallelic KCTD3 nonsense variant derived from paternal unip..:

Shimojima Yamamoto, Keiko ; Yoshimura, Ayumi ; Yamamoto, Toshiyuki
Human Genome Variation.  10 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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13

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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14

Preimplantation genetic testing using comprehensive genomic..:

Yamazaki, Aya ; Kuroda, Tomoko ; Kawasaki, Nami...
Journal of Human Genetics.  69 (2023)  1 - p. 41-45 , 2023
Link: https://doi.org/10.1038/..
 
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15

Novel BCL11B truncation variant in a patient with developme..:

Eto, Kaoru ; Machida, Osamu ; Yanagishita, Tomoe...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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