E-LIB Suche - Ergebnisse für: Keiko Matsubara

1

Advanced Maternal Age and the Development of Prader-Willi S..:

Tsutomu Ogata ; Keiko Matsubara ; Eiko Nagata... , 2011

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/..

3

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/..

4

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/..

5

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/..

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/..

7

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/..

8

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/..

9

(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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

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/..