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Yamazawa, Kazuki
62  results:
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1

C-terminal truncations in IQSEC2: implications for synaptic..:

Nakashima, Moeko ; Shiroshima, Tomoko ; Fukaya, Masahiro...
Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Risk assessment of assisted reproductive technology and par..:

Hara-Isono, Kaori ; Matsubara, Keiko ; Nakamura, Akie...
Clinical Epigenetics.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

The pathogenic role of the BRCA2 c.7847C>T (p.Ser2616Phe) v..:

Yamazawa, Kazuki ; Sugano, Kokichi ; Tanakaya, Kohji...
Cancer Science.  114 (2023)  7 - p. 2993-3002 , 2023
Link: https://doi.org/10.1111/..
 
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4

Arrhythmogenic right ventricular cardiomyopathy in a Japane..:

Murakami, Haruka ; Tanimoto, Yoko ; Tanimoto, Kojiro...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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5

A novel pathogenic variant of the FH gene in a family with ..:

Yagi, Yasuto ; Abeto, Naoko ; Shiraishi, Junichi...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

Frequency and clinical characteristics of distinct etiologi..:

Fuke, Tomoko ; Nakamura, Akie ; Inoue, Takanobu...
Journal of Human Genetics.  67 (2022)  10 - p. 607-611 , 2022
Link: https://doi.org/10.1038/..
 
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7

Pathogenic Copy Number and Sequence Variants in Children Bo..:

Hara-Isono, Kaori ; Nakamura, Akie ; Fuke, Tomoko...
The Journal of Clinical Endocrinology & Metabolism.  107 (2022)  8 - p. e3121-e3133 , 2022
Link: https://doi.org/10.1210/..
 
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8

Dynamics of transcription-mediated conversion from euchroma..:

Ohhata, Tatsuya ; Yamazawa, Kazuki ; Miura-Kamio, Asuka...
Cell Reports.  34 (2021)  13 - p. 108912 , 2021
Link: https://doi.org/10.1016/..
 
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9

A Japanese boy with double diagnoses of 2p15p16.1 microdele..:

Yamazawa, Kazuki ; Shimizu, Kenji ; Ohashi, Hirofumi...
Human Genome Variation.  8 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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10

Loss of imprinting of the human-specific imprinted gene ZNF..:

Yamazawa, Kazuki ; Inoue, Takanobu ; Sakemi, Yoshihiro...
Journal of Medical Genetics.  58 (2020)  6 - p. 427-432 , 2020
Link: https://doi.org/10.1136/..
 
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11

Genome-wide methylation analysis in Silver–Russell syndrome..:

Hara-Isono, Kaori ; Matsubara, Keiko ; Fuke, Tomoko...
Clinical Epigenetics.  12 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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12

Metacarpophalangeal pattern profile analysis for a 3‐month‐..:

Isobe, Aiko ; Maeda, Naonori ; Fujita, Hisayo...
American Journal of Medical Genetics Part A.  185 (2020)  3 - p. 952-954 , 2020
Link: https://doi.org/10.1002/..
 
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13

Compound heterozygous variants in the ABCG8 gene in a Japan..:

Hashimoto, Nobuhiro ; Dateki, Sumito ; Suzuki, Eri...
Human Genome Variation.  7 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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14

Contribution of gene mutations to Silver-Russell syndrome p..:

Inoue, Takanobu ; Nakamura, Akie ; Iwahashi-Odano, Megumi...
Clinical Epigenetics.  12 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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15

Role of Imprinting Disorders in Short Children Born SGA and..:

Fuke, Tomoko ; Nakamura, Akie ; Inoue, Takanobu...
The Journal of Clinical Endocrinology & Metabolism.  106 (2020)  3 - p. 802-813 , 2020
Link: https://doi.org/10.1210/..
 
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