E-LIB Suche - Ergebnisse für: Niikawa, Norio

1

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptati..:

Matsuura, Nobuo ; Kaname, Tadashi ; Niikawa, Norio...
Endocrine Connections. 11 (2022) 10 - p. , 2022

Link: https://doi.org/10.1530/..

2

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/..

3

Clinical correlations of mutations affecting six components..:

Kosho, Tomoki ; Okamoto, Nobuhiko ; Ohashi, Hirofumi...
American Journal of Medical Genetics Part A. 161 (2013) 6 - p. 1221-1237 , 2013

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

4

Pharmacogenetics of human ABC transporter ABCC11: new insig..:

Ishikawa, Toshihisa ; Toyoda, Yu ; Yoshiura, Koh-ichiro.
Frontiers in Genetics. 3 (2013) - p. , 2013

Link: https://doi.org/10.3389/..

5

Clinical phenotype and candidate genes for the 5q31.3 micro..:

Hosoki, Kana ; Ohta, Tohru ; Natsume, Jun...
American Journal of Medical Genetics Part A. 158A (2012) 8 - p. 1891-1896 , 2012

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

6

Erratum: Mutations in PRRT2 responsible for paroxysmal kine..:

Ono, Shinji ; Yoshiura, Koh-ichiro ; Kinoshita, Akira...
Journal of Human Genetics. 57 (2012) 6 - p. 399-399 , 2012

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

7

Mutations in PRRT2 responsible for paroxysmal kinesigenic d..:

Ono, Shinji ; Yoshiura, Koh-ichiro ; Kinoshita, Akira...
Journal of Human Genetics. 57 (2012) 5 - p. 338-341 , 2012

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

8

Mutations affecting components of the SWI/SNF complex cause..:

Tsurusaki, Yoshinori ; Okamoto, Nobuhiko ; Ohashi, Hirofumi...
Nature Genetics. 44 (2012) 4 - p. 376-378 , 2012

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

9

Hand‐foot‐genital syndrome with a 7p15 deletion: Clinically..:

Hosoki, Kana ; Ohta, Tohru ; Fujita, Keinosuke...
Pediatrics International. 54 (2012) 3 - p. , 2012

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

10

Mutation and copy number analysis in paroxysmal kinesigenic..:

Ono, Shinji ; Yoshiura, Koh‐ichiro ; Kurotaki, Naohiro...
Movement Disorders. 26 (2011) 4 - p. 762-764 , 2011

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

11

Proteasome assembly defect due to a proteasome subunit beta..:

Arima, Kazuhiko ; Kinoshita, Akira ; Mishima, Hiroyuki...
Proceedings of the National Academy of Sciences of the United States of America. 108 (2011) 36 - p. 14914-14919 , 2011

Link: https://www.jstor.org/st..

12

Proteasome assembly defect due to a proteasome subunit beta..:

Arima, Kazuhiko ; Kinoshita, Akira ; Mishima, Hiroyuki...
Proceedings of the National Academy of Sciences. 108 (2011) 36 - p. 14914-14919 , 2011

Link: https://doi.org/10.1073/..

13

Clinical application of fetal sex determination using cell-..:

Miura, Kiyonori ; Higashijima, Ai ; Shimada, Takako...
Journal of Human Genetics. 56 (2011) 4 - p. 296-299 , 2011

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

14

A type of familial cleft of the soft palate maps to 2p24.2–..:

Tsuda, Masayoshi ; Yamada, Takahiro ; Mikoya, Tadashi...
Journal of Human Genetics. 55 (2010) 2 - p. 124-126 , 2010

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

15

The possibility of microarray‐based analysis using cell‐fre..:

Miura, Kiyonori ; Miura, Shoko ; Yamasaki, Kentaro...
Prenatal Diagnosis. 30 (2010) 9 - p. 849-861 , 2010

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