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Sekiguchi, Futoshi
39
results:
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Online (39)
Mediatypes
Articles (Online) (23)
OpenAccess-fulltext (16)
Sorted by: Relevance
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?
1
MED12 mutations in uterine leiomyomas: prediction of volume..:
Nagai, Koichi
;
Asano, Ryoko
;
Sekiguchi, Futoshi
...
American Journal of Obstetrics and Gynecology. 228 (2023) 2 - p. 207.e1-207.e9 , 2023
Link:
https://doi.org/10.1016/..
?
2
Large-scale discovery of novel neurodevelopmental disorder-..:
Hamanaka, Kohei
;
Miyake, Noriko
;
Mizuguchi, Takeshi
...
Genome Medicine. 14 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1186/..
?
3
Pathogenic variants in the survival of motor neurons comple..:
Saida, Ken
;
Tamaoki, Junya
;
Sasaki, Masayuki
...
Clinical Genetics. 100 (2021) 6 - p. 722-730 , 2021
Link:
https://doi.org/10.1111/..
?
4
A patient with a 6q22.1 deletion and a phenotype of non-pro..:
Haginoya, Kazuhiro
;
Sekiguchi, Futoshi
;
Munakata, Mitsutoshi
...
Epilepsy & Behavior Reports. 15 (2021) - p. 100405 , 2021
Link:
https://doi.org/10.1016/..
?
5
Novel variants in aromatic L-amino acid decarboxylase defic..:
Hasegawa, Yuiko
;
Nishi, Eriko
;
Mishima, Yuko
...
Brain and Development. 43 (2021) 10 - p. 1023-1028 , 2021
Link:
https://doi.org/10.1016/..
?
6
Novel EXOSC9 variants cause pontocerebellar hypoplasia type..:
Sakamoto, Masamune
;
Iwama, Kazuhiro
;
Sekiguchi, Futoshi
...
Journal of Human Genetics. 66 (2020) 4 - p. 401-407 , 2020
Link:
https://doi.org/10.1038/..
?
7
Comprehensive genetic analysis of 57 families with clinical..:
Aoi, Hiromi
;
Mizuguchi, Takeshi
;
Ceroni, José Ricard
...
Journal of Human Genetics. 64 (2019) 10 - p. 967-978 , 2019
Link:
https://doi.org/10.1038/..
?
8
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/..
?
9
Comparison of mitochondrial DNA variants detection using sh..:
Alkanaq, Ahmed N.
;
Hamanaka, Kohei
;
Sekiguchi, Futoshi
...
Journal of Human Genetics. 64 (2019) 11 - p. 1107-1116 , 2019
Link:
https://doi.org/10.1038/..
?
10
Comprehensive analysis of coding variants highlights geneti..:
Takata, Atsushi
;
Nakashima, Mitsuko
;
Saitsu, Hirotomo
...
Nature Communications. 10 (2019) 1 - p. , 2019
Link:
https://doi.org/10.1038/..
?
11
A novel homozygous DPH1 mutation causes intellectual disabi..:
Sekiguchi, Futoshi
;
Nasiri, Jafar
;
Sedghi, Maryam
...
Journal of Human Genetics. 63 (2018) 4 - p. 487-491 , 2018
Link:
https://doi.org/10.1038/..
?
12
Predicting the intrauterine fetal death of fetuses with cys..:
Shimura, Mai
;
Ishikawa, Hiroshi
;
Nagase, Hiromi
...
Congenital Anomalies. 58 (2018) 5 - p. 167-170 , 2018
Link:
https://doi.org/10.1111/..
?
13
A homozygous NOP14 variant is likely to cause recurrent pre..:
Suzuki, Toshifumi
;
Behnam, Mahdiyeh
;
Ronasian, Firooze
...
Journal of Human Genetics. 63 (2018) 4 - p. 425-430 , 2018
Link:
https://doi.org/10.1038/..
?
14
Large-scale discovery of novel neurodevelopmental disorder-..:
Hamanaka, Kohei
;
Miyake, Noriko
;
Mizuguchi, Takeshi
...
Genome Medicine. , 2022
Link:
https://hdl.handle.net/1..
?
15
SOX11 variants cause a neurodevelopmental disorder with inf..:
Al-Jawahiri, Reem
;
Foroutan, Aidin
;
Kerkhof, Jennifer
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9245088/. , 2022
Link:
http://www.ncbi.nlm.nih...
1-15