E-LIB Suche - Ergebnisse für: Seyama, Rie

1

Auditory Neuropathy Spectrum Disorder Progressing with Moto..:

Okumura, Gaku ; Nakamura, Katsuya ; Seyama, Rie...
Internal Medicine. 63 (2024) 7 - p. 1005-1008 , 2024

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

2

An adolescent case of ASXL3-related disorder with delayed o..:

Arai, Yuto ; Okanishi, Tohru ; Okazaki, Tetsuya...
BMC Pediatrics. 24 (2024) 1 - p. , 2024

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

3

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/. , 2024

Link: http://www.ncbi.nlm.nih...

4

Distal arthrogryposis in a girl arising from a novel TNNI2 ..:

Seyama, Rie ; Uchiyama, Yuri ; Kaneshi, Yosuke...
Journal of Human Genetics. 68 (2023) 5 - p. 363-367 , 2023

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

5

Cervical Cerclage to Prevent Intrauterine Balloon Prolapse:

Suzuki, Toshifumi ; Takeda, Jun ; Seyama, Rie...
The Surgery Journal. 9 (2023) 1 - p. e36-e38 , 2023

Link: https://doi.org/10.1055/..

6

A missense variant at the RAC1-PAK1 binding site of RAC1 in..:

Seyama, Rie ; Nishikawa, Masashi ; Uchiyama, Yuri...
Scientific Reports. 13 (2023) 1 - p. , 2023

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

7

Imagawa–Matsumoto syndrome: SUZ12‐related overgrowth disord..:

Imagawa, Eri ; Seyama, Rie ; Aoi, Hiromi...
Clinical Genetics. 103 (2023) 4 - p. 383-391 , 2023

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

8

Biallelic structural variations withinFGF12detected by long..:

Ohori, Sachiko ; Miyauchi, Akihiko ; Osaka, Hitoshi...
Life Science Alliance. 6 (2023) 8 - p. e202302025 , 2023

Link: https://doi.org/10.26508..

9

Biallelic structural variations within FGF12 detected by lo..:

Ohori, Sachiko ; Miyauchi, Akihiko ; Osaka, Hitoshi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248215/. , 2023

Link: http://www.ncbi.nlm.nih...

10

A missense variant at the RAC1-PAK1 binding site of RAC1 in..:

Rie Seyama ; Masashi Nishikawa ; Yuri Uchiyama...
https://doi.org/10.1038/s41598-023-36381-0. , 2023

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

11

A missense variant at the RAC1-PAK1 binding site of RAC1 in..:

Seyama, Rie ; Nishikawa, Masashi ; Uchiyama, Yuri...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275923/. , 2023

Link: http://www.ncbi.nlm.nih...

12

Cervical Cerclage to Prevent Intrauterine Balloon Prolapse:

Toshifumi Suzuki ; Jun Takeda ; Rie Seyama...
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-1749427. , 2023

Link: https://doi.org/10.1055/..

13

Should we perform cerclage as late as possible and wait unt..:

Seyama, Rie ; Makino, Shintaro
Taiwanese Journal of Obstetrics and Gynecology. 61 (2022) 4 - p. 732 , 2022

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

14

Distal 2q duplication in a patient with intellectual disabi..:

Suzuki, Toshifumi ; Osaka, Hitoshi ; Miyake, Noriko...
Human Genome Variation. 9 (2022) 1 - p. , 2022

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

15

The retrospective study for effectiveness of cervical cercl..:

Seyama, Rie ; Makino, Shintaro ; Takeda, Jun..
Taiwanese Journal of Obstetrics and Gynecology. 61 (2022) 1 - p. 63-69 , 2022

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