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Matsumoto, Naomichi
203
results:
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english (178)
Sorted by: Relevance
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1
Spliceosome malfunction causes neurodevelopmental disorders..:
Li, Dong
;
Wang, Qin
;
Bayat, Allan
...
https://portal.findresearcher.sdu.dk/da/publications/e079da84-b22a-4548-8f2f-7581a2eaabbf. , 2024
Link:
https://portal.findresea..
?
2
A de novo dominant-negative variant is associated with OTUL..:
Takeda, Yukiko
;
Ueki, Masahiro
;
Matsuhiro, Junpei
...
10.1084/jem.20231941. , 2024
Link:
http://hdl.handle.net/24..
?
3
Spliceosome malfunction causes neurodevelopmental disorders..:
Li, Dong
;
Wang, Qin
;
Bayat, Allan
...
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaed. , 2024
Link:
https://pure.eur.nl/en/p..
?
4
Spliceosome malfunction causes neurodevelopmental disorders..:
Li, Dong
;
Wang, Qin
;
Bayat, Allan
...
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaed. , 2024
Link:
https://pure.eur.nl/en/p..
?
5
Association of biallelic RFC1 expansion with early-onset Pa..:
Ylikotila, Pauli
;
Sipilä, Jussi
;
Alapirtti, Tiina
...
European Journal of Neurology. , 2023
Link:
https://trepo.tuni.fi/ha..
?
6
Null and missense mutations of ERI1 cause a recessive pheno..:
Guo, Long
;
Salian, Smrithi
;
Xue, Jing-Yi
...
qt3cz144h4. , 2023
Link:
https://escholarship.org..
?
7
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H
;
Reilly, Jack
;
Cornips, Marie-Claire
...
https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307dd. , 2023
Link:
https://research.vumc.nl..
?
8
Null and missense mutations of ERI1 cause a recessive pheno..:
Guo, Long
;
Salian, Smrithi
;
Xue, Jing-Yi
...
https://research.manchester.ac.uk/en/publications/34deb2a7-cd02-4d3d-b55f-948df2ddcf1b. , 2023
Link:
https://research.manches..
?
9
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H
;
Reilly, Jack
;
Cornips, Marie Claire
...
https://research.rug.nl/en/publications/0fc76428-2e26-4b91-94b3-63a3514ac0d6. , 2023
Link:
https://hdl.handle.net/1..
?
10
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H
;
Reilly, Jack
;
Cornips, Marie-Claire
...
https://research.vumc.nl/en/publications/3b04e7e5-7564-479a-aa70-2dd1d5f307dd. , 2023
Link:
https://research.vumc.nl..
?
11
KCNT2-Related Disorders:Phenotypes, Functional, and Pharmac..:
Cioclu, Maria Cristina
;
Mosca, Ilaria
;
Ambrosino, Paolo
...
https://portal.findresearcher.sdu.dk/da/publications/cedb2bc1-9cb1-4a69-b282-4321a151acad. , 2023
Link:
https://portal.findresea..
?
12
Delineation of a KDM2B-related neurodevelopmental disorder ..:
van Jaarsveld, Richard H
;
Reilly, Jack
;
Cornips, Marie-Claire
...
1098-3600. , 2023
Link:
https://dspace.library.u..
?
13
Clinical diversity and molecular mechanism of VPS35L-associ..:
Otsuji, Shiomi
;
Nishio, Yosuke
;
Tsujita, Maki
...
0022-2593. , 2023
Link:
https://dspace.library.u..
?
14
A case of epilepsy with myoclonic atonic seizures caused by..:
Mori, Tatsuo
;
Sakamoto, Masamune
;
Tayama, Takahiro
...
http://repo.lib.tokushima-u.ac.jp/files/public/11/118474/20230912154606668219/braindev_45_7_395.pdf. , 2023
Link:
http://repo.lib.tokushim..
?
15
Stretch-activated ion channel TMEM63B associates with devel..:
Conti, Valerio
;
Giubbolini, Simone
;
Barrick, Rebekah
...
qt4bb0k2qj. , 2023
Link:
https://escholarship.org..
1-15