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Matsubara, Keiko
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1

Pseudohypoparathyroidism type 1B with involuntary movements..:

Naganuma, Junko ; Suzumura, Hiroshi ; Koyama, Satomi...
Clinical Pediatric Endocrinology.  33 (2024)  3 - p. 151-156 , 2024
Link: https://doi.org/10.1297/..
 
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2

Long-read next-generation sequencing for molecular diagnosi..:

Kuroki, Yoko ; Hattori, Atsushi ; Matsubara, Keiko.
Annals of Pediatric Endocrinology & Metabolism.  29 (2024)  3 - p. 156-160 , 2024
Link: https://doi.org/10.6065/..
 
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3

Exome‐based genome‐wide screening of rare variants associat..:

Tamaoka, Satoshi ; Saito, Kazuki ; Yoshida, Tomoko...
Reproductive Medicine and Biology.  22 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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4

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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5

Perinatal and neonatal characteristics of Prader–Willi synd..:

Oto, Yuji ; Murakami, Nobuyuki ; Imatani, Kaishi...
Pediatrics International.  65 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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6

Variations in gender identity and sexual orientation of uni..:

Yoshida, Tomoko ; Matsubara, Keiko ; Ogata-Kawata, Hiroko...
Sexual Medicine.  11 (2023)  5 - p. , 2023
Link: https://doi.org/10.1093/..
 
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7

Rare sequence variants associated with the risk of non‐synd..:

Tamaoka, Satoshi ; Fukuda, Akinari ; Nakabayashi, Kazuhiko...
Hepatology Research.  53 (2023)  11 - p. 1134-1141 , 2023
Link: https://doi.org/10.1111/..
 
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8

(Epi)genetic and clinical characteristics in 84 patients wi..:

Urakawa, Tatsuki ; Sano, Shinichiro ; Kawashima, Sayaka...
European Journal of Endocrinology.  189 (2023)  6 - p. 590-600 , 2023
Link: https://doi.org/10.1093/..
 
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9

Exome-wide benchmark of difficult-to-sequence regions using..:

Hijikata, Atsushi ; Suyama, Mikita ; Kikugawa, Shingo...
Nucleic Acids Research.  52 (2023)  1 - p. 114-124 , 2023
Link: https://doi.org/10.1093/..
 
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10

A nationwide survey of Schaaf-Yang syndrome in Japan:

Negishi, Yutaka ; Kurosawa, Kenji ; Takano, Kyoko...
Journal of Human Genetics.  67 (2022)  12 - p. 735-738 , 2022
Link: https://doi.org/10.1038/..
 
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11

Achievement of Developmental Milestones Recorded in Real Ti..:

Matsubara, Keiko ; Hattori, Tomoyuki ; Narumi, Satoshi
The Journal of Pediatrics.  245 (2022)  - p. 201-207.e9 , 2022
Link: https://doi.org/10.1016/..
 
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12

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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13

Collection of 2429 constrained headshots of 277 volunteers ..:

Aoto, Saki ; Hangai, Mayumi ; Ueno-Yokohata, Hitomi...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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14

A boy with overgrowth caused by multi-locus imprinting dist..:

Narusawa, Hiromune ; Sasaki, Sunao ; Hara-Isono, Kaori...
European Journal of Medical Genetics.  65 (2022)  6 - p. 104502 , 2022
Link: https://doi.org/10.1016/..
 
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15

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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