E-LIB Suche - Ergebnisse für: Fukami, Maki

1

SHOX and sex difference in height: a hypothesis:

Ogata, Tsutomu ; Hattori, Atsushi ; Fukami, Maki
Endocrine Journal. , 2025

Link: https://doi.org/10.1507/..

2

Functional variants in a TTTG microsatellite on 15q26.1 cau..:

Narumi, Satoshi ; Nagasaki, Keisuke ; Kiriya, Mitsuo...
Nature Genetics. 56 (2024) 5 - p. 869-876 , 2024

Link: https://doi.org/10.1038/..

3

Initial clinical manifestations in a young male with RFX6-v..:

Akiba, Kazuhisa ; Zukeran, Hiroaki ; Hasegawa, Yukihiro.
Clinical Pediatric Endocrinology. , 2024

Link: https://doi.org/10.1297/..

4

DNA methylation changes in the genome of patients with hypo..:

Suzuki, Erina ; Nakabayashi, Kazuhiko ; Aoto, Saki...
Heliyon. 10 (2024) 18 - p. e37648 , 2024

Link: https://doi.org/10.1016/..

5

Systematic molecular analyses for 115 karyotypically normal..:

Muranishi, Yuki ; Kobori, Yoshitomo ; Katoh-Fukui, Yuko...
Human Reproduction. 39 (2024) 5 - p. 1131-1140 , 2024

Link: https://doi.org/10.1093/..

6

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/..

7

Efficacy and safety of GH treatment in Japanese children wi..:

Ogata, Tsutomu ; Fukami, Maki ; Tanizawa, Kazunori...
Clinical Pediatric Endocrinology. 33 (2024) 2 - p. 43-49 , 2024

Link: https://doi.org/10.1297/..

8

A novel variant of IGSF1 in siblings withcongenital central..:

Yamamura, Yoshiko ; Fukami, Maki ; Matsuyama, Misayo.
Clinical Pediatric Endocrinology. 33 (2024) 1 - p. 17-22 , 2024

Link: https://doi.org/10.1297/..

9

PTPN11 and FLNAvariants in a boy with ambiguous genitalia, ..:

Muranishi, Yuki ; Itonaga, Tomoyo ; Ihara, Kenji...
Clinical Pediatric Endocrinology. 33 (2024) 3 - p. 169-173 , 2024

Link: https://doi.org/10.1297/..

10

ABCC8 haploinsufficiency in a mother-daughter pair with you..:

Uehara, Erika ; Shimura, Naoto ; Matsubara, Keiko...
Clinical Pediatric Endocrinology. , 2024

Link: https://doi.org/10.1297/..

11

CHARGE syndrome in a child with a CHD7 variant and a novel ..:

Kamimura, Miki ; Shima, Hirohito ; Suzuki, Erina...
Clinical Pediatric Endocrinology. , 2024

Link: https://doi.org/10.1297/..

12

Expression levels and DNA methylation profiles of the growt..:

Hattori, Atsushi ; Seki, Atsuhito ; Inaba, Naoto...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

13

Homozygous 6-bp deletion of IGFALS in a prepubertal boy wit..:

Doi, Hibiki ; Kageyama, Ikuko ; Katoh-Fukui, Yuko...
Human Genome Variation. 11 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

14

(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/..

15

The Structural Abnormalities Are Deeply Involved in the Cau..:

Torii, Kaoruko ; Nishina, Sachiko ; Morikawa, Hazuki...
International Journal of Molecular Sciences. 24 (2023) 18 - p. 13678 , 2023

Link: https://doi.org/10.3390/..