E-LIB Suche - Ergebnisse für: Akie Nakamura

1

Comprehensive overview of disease models for Wolfram syndro..:

Morikawa, Shuntaro ; Tanabe, Katsuya ; Kaneko, Naoya..
Mammalian Genome. 35 (2024) 1 - p. 1-12 , 2024

Link: https://doi.org/10.1007/..

2

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/..

3

Adipsic hypernatremia with marked hyperprolactinemia and GH..:

Segoe, Hisato ; Nakamura, Akie ; Uetake, Kimiaki...
Clinical Pediatric Endocrinology. 33 (2024) 3 - p. 163-168 , 2024

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

4

Functional Analysis of a Novel HNF4A Variant Identified in ..:

Morikawa, Shuntaro ; Ko, Hui Ling ; Ren, Ee Chee...
Journal of the Endocrine Society. 8 (2024) 6 - p. , 2024

Link: https://doi.org/10.1210/..

5

Novel insight into nicotinamide adenine dinucleotide and re..:

Fujita, Hiroaki ; Wakiya, Taiichi ; Tatara, Yota...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

6

Guidelines for Newborn Screening of Congenital Hypothyroidi..:

Nagasaki, Keisuke ; Minamitani, Kanshi ; Nakamura, Akie...
Clinical Pediatric Endocrinology. 32 (2023) 1 - p. 26-51 , 2023

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

7

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/..

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/..

9

ODP459 Adiposity Rebound in Japanese Patients with Congenit..:

Nakayama, Kanako ; Kaneko, Naoya ; Hishimura, Nozomi...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A755-A756 , 2022

Link: https://doi.org/10.1210/..

10

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/..

11

Functional analysis of PAX8 variants identified in patients..:

Batjargal, Khishigjargal ; Tajima, Toshihiro ; Fujita-Jimbo, Eriko...
Clinical Pediatric Endocrinology. 31 (2022) 4 - p. 234-241 , 2022

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

12

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/..

13

Necrotizing pancreatitis complicated by retroperitoneal emp..:

Chida, Kohei ; Ishido, Keinosuke ; Sakamoto, Yoshiyuki...
Surgical Case Reports. 8 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

14

Successful kidney transplantation in a patient with neonata..:

Okamoto, Takayuki ; Nakamura, Akie ; Hayashi, Asako...
Pediatric Transplantation. 25 (2021) 5 - p. , 2021

Link: https://doi.org/10.1111/..

15

SOX10 Mutation Screening for 117 Patients with Kallmann Syn..:

Shima, Hirohito ; Tokuhiro, Etsuro ; Okamoto, Shingo...
Journal of the Endocrine Society. 5 (2021) 7 - p. , 2021

Link: https://doi.org/10.1210/..