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Yumi Enomoto
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Journal Articles

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus

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Subject Area:
Genetics
Yumi Enomoto, Takuya Naruto, Jun Mitsui, Hideaki Ueda, Kenji Kurosawa
Journal: Molecular Syndromology
Mol Syndromol (2024)
https://doi.org/10.1159/000543316
Published Online: 30 December 2024
View articletitled, A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus
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Journal Articles

Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Naoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, Hiroaki Murakami, Azusa Ikeda, Tomohide Goto, Kenji Kurosawa
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (3): 221–225.
https://doi.org/10.1159/000520134
Published Online: 02 February 2022
View articletitled, Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
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Journal Articles

Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Hiroaki Murakami, Tomoko Uehara, Yumi Enomoto, Naoto Nishimura, Tatsuro Kumaki, Yukiko Kuroda, Mizuki Asano, Noriko Aida, Kenjiro Kosaki, Kenji Kurosawa
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (1): 75–79.
https://doi.org/10.1159/000517977
Published Online: 22 September 2021
View articletitled, Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome
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Journal Articles

A Recurrent Variant in POLR1B , c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Yumi Enomoto, Yoshinori Tsurusaki, Makiko Tominaga, Shinji Kobayashi, Maki Inoue, Kazutoshi Fujita, Tatsuro Kumaki, Hiroaki Murakami, Kenji Kurosawa
Journal: Molecular Syndromology
Mol Syndromol (2021) 12 (2): 127–132.
https://doi.org/10.1159/000513224
Published Online: 02 March 2021
View articletitled, A Recurrent Variant in POLR1B , c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4
Open the PDF for A Recurrent Variant in POLR1B , c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4 in another window