E-LIB Suche - Ergebnisse für: Tonoki, Hidefumi

1

A Noonan‐like pediatric patient with a de novo CBL pathogen..:

Chida‐Nagai, Ayako ; Tonoki, Hidefumi ; Makita, Naomasa...
American Journal of Medical Genetics Part A. 191 (2023) 12 - p. 2837-2842 , 2023

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

2

Precise definition of the breakpoints of an apparently bala..:

Yamada, Mamiko ; Suzuki, Hisato ; Miya, Fuyuki...
Congenital Anomalies. 63 (2023) 4 - p. 121-124 , 2023

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

3

Selective Eating in Autism Spectrum Disorder Leading to Kwa..:

Maruo, Yuji ; Egawa, Kiyoshi ; Tonoki, Hidefumi...
Pediatric Neurology. 116 (2021) - p. 55-56 , 2021

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

4

Hypomethylation of a centromeric block of ICR1 is sufficien..:

Higashimoto, Ken ; Watanabe, Hijiri ; Tanoue, Yuka...
Journal of Medical Genetics. 58 (2020) 6 - p. 422-425 , 2020

Link: https://doi.org/10.1136/..

5

A girl presenting with gradually elevated levels of serum c..:

Hamada, Shiori ; Kato, Chie ; Takahashi, Toshiyuki...
Pediatric Nephrology. 35 (2020) 8 - p. 1427-1428 , 2020

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

6

A girl presenting with gradually elevated levels of serum c..:

Hamada, Shiori ; Kato, Chie ; Takahashi, Toshiyuki...
Pediatric Nephrology. 35 (2020) 8 - p. 1425-1425 , 2020

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

7

Comprehensive clinical and molecular studies in split-hand/..:

Yamoto, Kaori ; Saitsu, Hirotomo ; Nishimura, Gen...
European Journal of Human Genetics. 27 (2019) 12 - p. 1845-1857 , 2019

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

8

A case of 45,X/47,XXX mosaic Turner syndrome with limb leng..:

Hishimura-Yonemaru, Nozomi ; Okuhara, Koji ; Takahashi, Nobuhiro...
Clinical Pediatric Endocrinology. 26 (2017) 4 - p. 259-263 , 2017

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

9

Miller‐Dieker Syndrome with unbalanced translocation 45, X,..:

Mishima, Takashi ; Watari, Michiko ; Iwaki, Yutaka...
Congenital Anomalies. 57 (2017) 2 - p. 61-63 , 2017

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

10

Genetic and prenatal findings in two Japanese patients with..:

Hishimura, Nozomi ; Watari, Michiko ; Ohata, Hiroki...
Clinical Case Reports. 5 (2016) 1 - p. 5-8 , 2016

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

11

Comprehensive and quantitative multilocus methylation analy..:

Maeda, Toshiyuki ; Higashimoto, Ken ; Jozaki, Kosuke...
Genetics in Medicine. 16 (2014) 12 - p. 903-912 , 2014

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

12

Japanese founder duplications/triplications involving BHLHA..:

Nagata, Eiko ; Kano, Hiroki ; Kato, Fumiko...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

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

13

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (..:

Kaname, Tadashi ; Ki, Chang-Seok ; Niikawa, Norio...
Cellular Signalling. 26 (2014) 11 - p. 2446-2459 , 2014

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

14

MLL2 and KDM6A mutations in patients with Kabuki syndrome:

Miyake, Noriko ; Koshimizu, Eriko ; Okamoto, Nobuhiko...
American Journal of Medical Genetics Part A. 161 (2013) 9 - p. 2234-2243 , 2013

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

15

A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxyla..:

Yamamoto, Sayaka ; Okuhara, Koji ; Tonoki, Hidefumi...
Clinical Pediatric Endocrinology. 22 (2013) 4 - p. 83-86 , 2013

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