Mamiko Yamada
29PUBLICATIONS
19CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (29)
Sort by Publication Date:
|Jan 31, 2025
Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.Nao Ukita, Takuya Ogawa, Mamiko Yamada
|Apr 02, 2024
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.Mamiko Yamada, Seiji Mizuno, Mie Inaba
|Feb 26, 2024
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy.Megumi Nishino, Mai Tanaka, Kazuo Imagawa
|Jul 14, 2023
Café-au-lait Spots and Cleft Palate: Not a Chance Association.Mamiko Yamada, Katsumi Tanito, Hisato Suzuki
|Mar 22, 2023
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption.Mamiko Yamada, Hisato Suzuki, Fuyuki Miya
|Mar 11, 2023
Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase.Yuji Yoshikawa, Takashi Koto, Tomoka Ishida
Pageof 5
Frequent Collaborators
16 joint publications
Kenjiro Kosaki
15 joint publications
Hisato Suzuki
14 joint publications
Tomoko Uehara
12 joint publications
Toshiki Takenouchi
1 joint publications
Seiji Mizuno
1 joint publications
Takeshi Arimitsu
1 joint publications
Tomoru Miwa
1 joint publications
Eri Ogawa
1 joint publications
Hiroyuki Adachi
1 joint publications
Atsuko Noguchi
