Yukiko Kuroda

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 27

Top Topics

Intellectual Disability

Top Venues

American journal of medical genetics. Part A

Journal of human genetics

Congenital anomalies

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Yukiko Kuroda, Takuya Naruto, Kenji Kurosawa
Subtle phenotypes of Mowat-Wilson syndrome in a patient with a novel ZEB2 C-ZF domain variant. American journal of medical genetics. Part A (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant. American journal of medical genetics. Part A 194 (7) (2024)
Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7. Journal of human genetics 69 (7) (2024)
Yukiko Kuroda, Takeshi Uehara, Yumi Enomoto, Takuya Naruto, Nozomi Matsumura, Kenji Kurosawa
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis. American journal of medical genetics. Part A (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A (2024)
Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7. Journal of human genetics (2024)
Yukiko Kuroda, Takuya Naruto, Yu Tsuyusaki, Ayumi Kato, Noriko Aida, Kenji Kurosawa
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7. Journal of human genetics 69 (7) (2024)
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant. American journal of medical genetics. Part A (2024)
Yasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, Takuya Naruto, Koji Muroya, Kenji Kurosawa
Noonan syndrome-like phenotype associated with an ERF frameshift variant. American journal of medical genetics. Part A 194 (9) (2024)
Yukiko Kuroda, Azusa Ikeda, Takuya Naruto, Kenji Kurosawa
Early-onset West syndrome with developmental delay associated with a novel KLHL20 variant. American journal of medical genetics. Part A 194 (7) (2024)
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant. American journal of medical genetics. Part A (2023)
Yukiko Kuroda, Mayumi Matsufuji, Yumi Enomoto, Hitoshi Osaka, Jun-Ichi Takanashi, Toshiyuki Yamamoto, Yurika Numata-Uematsu, Kenshiro Tabata, Kenji Kurosawa, Ken Inoue
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. American journal of medical genetics. Part A (2023)
Yukiko Kuroda, Yoko Saito, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Kenji Kurosawa
PHACES-like syndrome with TMEM260 compound heterozygous variants. American journal of medical genetics. Part A (2023)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Yukiko Kuroda, Tatsuro Kumaki, Yoko Saito, Yumi Enomoto, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Kenji Kurosawa
A novel variant of ARPC4-related neurodevelopmental disorder. American journal of medical genetics. Part A 191 (3) (2022)
Hiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, Yukiko Kuroda, Takayuki Yokoi, Noritaka Furuya, Hiroshi Yoshihashi, Mari Minatogawa, Chihiro Abe-Hatano, Ikuko Ohashi, Naoto Nishimura, Tatsuro Kumaki, Yumi Enomoto, Takuya Naruto, Fuminori Iwasaki, Noriaki Harada, Aki Ishikawa, Hiroshi Kawame, Kiyoko Sameshima, Yu Yamaguchi, Masahisa Kobayashi, Makiko Tominaga, Satoshi Ishikiriyama, Toshiaki Tanaka, Hiroshi Suzumura, Shinsuke Ninomiya, Akane Kondo, Tadashi Kaname, Kenjiro Kosaki, Mitsuo Masuno, Yoshikazu Kuroki, Kenji Kurosawa
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome. American journal of medical genetics. Part A 182 (10) (2020)
Yukiko Kuroda, Yuichi Kimura, Tomoko Uehara, Kenjiro Kosaki, Kenji Kurosawa
Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability. Congenital anomalies (2019)
Yukiko Kuroda, Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Kazumi Takahashi, Kanako Mitsuzuka, Hitoshi Ishimoto, Gen Nishimura, Kenji Kurosawa
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia. Clinical genetics 95 (6) (2019)
Satoshi Takenaka, Yukiko Kuroda, Sayaka Ohta, Yoko Mizuno, Mitsuteru Hiwatari, Satoko Miyatake, Naomichi Matsumoto, Akira Oka
A Japanese patient with RAD51-associated Fanconi anemia. American journal of medical genetics. Part A 179 (6) (2019)
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1. Congenital anomalies 58 (6) (2018)
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Sadamitsu Yanagi, Hideaki Ueda, Kenji Kurosawa
Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion. Journal of human genetics 63 (11) (2018)