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Matsumoto, Naomichi
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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..
 
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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..
 
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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..
 
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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..
 
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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..
 
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6

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-Yi...
qt3cz144h4.  , 2023
Link: https://escholarship.org..
 
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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..
 
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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..
 
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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..
 
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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..
 
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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..
 
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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..
 
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13

Clinical diversity and molecular mechanism of VPS35L-associ..:

Otsuji, Shiomi ; Nishio, Yosuke ; Tsujita, Maki...
0022-2593.  , 2023
Link: https://dspace.library.u..
 
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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..
 
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15

Stretch-activated ion channel TMEM63B associates with devel..:

Conti, Valerio ; Giubbolini, Simone ; Barrick, Rebekah...
qt4bb0k2qj.  , 2023
Link: https://escholarship.org..
 
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