E-LIB Suche - Ergebnisse für: Dateki, Sumito

1

Clinical outcomes and medical management of achondroplasia ..:

Saitou, Hiroyuki ; Kitaoka, Taichi ; Kubota, Takuo...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024

Link: https://doi.org/10.1002/..

2

An Iron-chelating Agent Improved the Cardiac Function in a ..:

Setoguchi, Akito ; Kawano, Hiroaki ; Okano, Shinji...
Internal Medicine. 63 (2024) 2 - p. 253-258 , 2024

Link: https://doi.org/10.2169/..

3

Improved sensitivity and specificity for citrin deficiency ..:

Kido, Jun ; Häberle, Johannes ; Tanaka, Toju...
Journal of Inherited Metabolic Disease. , 2023

Link: https://doi.org/10.1002/..

4

(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/..

5

Growth Hormone Injection Log Analysis with Electronic Injec..:

Takasawa, Kei ; Mabe, Hiroyo ; Nagamatsu, Fusa...
Patient Preference and Adherence. 17 (2023) - p. 1885-1894 , 2023

Link: https://doi.org/10.2147/..

6

MO047: Biallelic pathogenic variants in ROBO1 associate wit..:

Münch, Johannes ; Engesser, Marie ; Schönauer, Ria...
Nephrology Dialysis Transplantation. 37 (2022) Supplement_3 - p. , 2022

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

7

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/..

8

A case of ezetimibe-effective hypercholesterolemia with a n..:

Nakano, Yujiro ; Komiya, Chikara ; Shimizu, Hitomi...
Endocrine Journal. 67 (2020) 11 - p. 1099-1105 , 2020

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

9

Identification of a homozygous frameshift variant in RFLNA ..:

Shimizu, Hitomi ; Watanabe, Satoshi ; Kinoshita, Akira...
Journal of Human Genetics. 64 (2019) 5 - p. 467-471 , 2019

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

10

KAT6B-related disorder in a patient with a novel frameshift..:

Hamaguchi, Yo ; Aoki, Mikihiro ; Watanabe, Satoshi...
Human Genome Variation. 6 (2019) 1 - p. , 2019

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

11

Language delay and developmental catch-up would be a clinic..:

Miyakawa, Yuichi ; Takasawa, Kei ; Matsubara, Yohei...
Endocrine Journal. 66 (2019) 3 - p. 215-221 , 2019

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

12

Genetic abnormalities in a large cohort of Coffin–Siris syn..:

Sekiguchi, Futoshi ; Tsurusaki, Yoshinori ; Okamoto, Nobuhiko...
Journal of Human Genetics. 64 (2019) 12 - p. 1173-1186 , 2019

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

13

A homozygous splice site ROBO1 mutation in a patient with a..:

Dateki, Sumito ; Watanabe, Satoshi ; Mishima, Hiroyuki...
Journal of Human Genetics. 64 (2019) 4 - p. 341-346 , 2019

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

14

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenoty..:

Motokawa, Midori ; Watanabe, Satoshi ; Nakatomi, Akiko...
Journal of Human Genetics. 63 (2018) 3 - p. 387-390 , 2018

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

15

Novel compound heterozygous variants in the LARP7 gene in a..:

Dateki, Sumito ; Kitajima, Tasuku ; Kihara, Toshiharu...
Human Genome Variation. 5 (2018) 1 - p. , 2018

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